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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 7 82579067 82579067 C > A PCLO PCLO NM_014510.2:c.10837G>T
NM_033026.5:c.10837G>T
NP_055325.2:p.Ala3613Ser
NP_149015.2:p.Ala3613Ser
8/8685 0.00046 3 non_synonymous Uncertain Significance
View 7 82583853 82583853 T > C PCLO PCLO NM_014510.2:c.6416A>G
NM_033026.5:c.6416A>G
NP_055325.2:p.Glu2139Gly
NP_149015.2:p.Glu2139Gly
4/8685 0.00023 3 non_synonymous Uncertain Significance
View 7 87069546 87069546 T > C ABCB4 ABCB4 ABCB4 NM_018850.2:c.1529A>G
NM_000443.3:c.1529A>G
NM_018849.2:c.1529A>G
NP_061338.1:p.Asn510Ser
NP_000434.1:p.Asn510Ser
NP_061337.1:p.Asn510Ser
5/10773 0.00023 3 Uncertain Significance
View 7 97482383 97482383 C > T ASNS ASNS ASNS ASNS ASNS ASNS NM_183356.3:c.1465G>A
NM_001178077.1:c.1216G>A
NM_133436.3:c.1465G>A
NM_001178075.1:c.1402G>A
NM_001178076.1:c.1216G>A
NM_001673.4:c.1465G>A
NP_899199.2:p.Val489Ile
NP_001171548.1:p.Val406Ile
NP_597680.2:p.Val489Ile
NP_001171546.1:p.Val468Ile
NP_001171547.1:p.Val406Ile
NP_001664.3:p.Val489Ile
4/8685 0.00023 3 non_synonymous Uncertain Significance
View 7 97482484 97482484 G > A ASNS ASNS ASNS ASNS ASNS ASNS NM_183356.3:c.1364C>T
NM_001178077.1:c.1115C>T
NM_133436.3:c.1364C>T
NM_001178075.1:c.1301C>T
NM_001178076.1:c.1115C>T
NM_001673.4:c.1364C>T
NP_899199.2:p.Ser455Phe
NP_001171548.1:p.Ser372Phe
NP_597680.2:p.Ser455Phe
NP_001171546.1:p.Ser434Phe
NP_001171547.1:p.Ser372Phe
NP_001664.3:p.Ser455Phe
32/8685 0.00184 3 non_synonymous Uncertain Significance
View 7 98782671 98782671 G > T KPNA7 NM_001145715.1:c.1015C>A
NP_001139187.1:p.Pro339Thr
2/8685 0.00012 1 Uncertain Significance
View 7 99701060 99701060 C > T AP4M1 NM_004722.3:c.380C>T
NP_004713.2:p.Thr127Met
13/8685 0.00075 3 non_synonymous Uncertain Significance
View 7 103126879 103126879 C > G RELN RELN NM_173054.2:c.9764-16G>C
NM_005045.3:c.9764-16G>C
1/10482 5.0e-05 3 three_prime_flank Uncertain Significance
View 7 103234938 103234938 A > C RELN RELN NM_173054.2:c.3541T>G
NM_005045.3:c.3541T>G
NP_774959.1:p.Phe1181Val
NP_005036.2:p.Phe1181Val
1/10521 5.0e-05 3 non_synonymous Uncertain Significance
View 7 103281044 103281044 G > A RELN RELN NM_173054.2:c.2015C>T
NM_005045.3:c.2015C>T
NP_774959.1:p.Pro672Leu
NP_005036.2:p.Pro672Leu
5/10521 0.00024 3 Uncertain Significance
View 7 103322621 103322621 G > T RELN RELN NM_173054.2:c.1231C>A
NM_005045.3:c.1231C>A
NP_774959.1:p.Leu411Ile
NP_005036.2:p.Leu411Ile
5/10521 0.00024 1 Uncertain Significance
View 7 103629665 103629665 C > T RELN RELN NM_173054.2:c.139G>A
NM_005045.3:c.139G>A
NP_774959.1:p.Glu47Lys
NP_005036.2:p.Glu47Lys
25/10521 0.00119 3 non_synonymous Uncertain Significance
View 7 107572729 107572730 - > C LAMB1 NM_002291.2:c.4281dupG
NP_002282.2:p.Pro1428AlafsTer30
2/8685 0.00012 3 frameshift Uncertain Significance
View 7 107592624 107592624 C > T LAMB1 NM_002291.2:c.3124G>A
NP_002282.2:p.Gly1042Ser
10/8685 0.00063 3 non_synonymous Uncertain Significance
View 7 114298205 114298205 A > G FOXP2 FOXP2 FOXP2 FOXP2 FOXP2 FOXP2 NM_148898.3:c.1426A>G
NR_033767.1:n.1783A>G
NR_033766.1:n.1854-1206A>G
NM_148900.3:c.1402A>G
NM_014491.3:c.1351A>G
NM_001172766.2:c.1348A>G
NP_683696.2:p.Thr476Ala
NP_683698.2:p.Thr468Ala
NP_055306.1:p.Thr451Ala
NP_001166237.1:p.Thr450Ala
1/8685 6.0e-05 3 non_synonymous Uncertain Significance
View 7 117149147 117149147 G > A CFTR NM_000492.3:c.224G>A
NP_000483.3:p.Arg75Gln
505/10773 0.02386 3 Uncertain Significance
View 7 117230454 117230454 G > C CFTR NM_000492.3:c.1727G>C
NP_000483.3:p.Gly576Ala
121/10773 0.00562 3 Uncertain Significance
View 7 117232223 117232223 C > T CFTR NM_000492.3:c.2002C>T
NP_000483.3:p.Arg668Cys
161/10773 0.00747 3 Uncertain Significance
View 7 117251649 117251649 T > G CFTR NM_000492.3:c.3154T>G
NP_000483.3:p.Phe1052Val
11/10773 0.00051 1 Uncertain Significance
View 7 121733160 121733160 T > C AASS NM_005763.3:c.1708A>G
NP_005754.2:p.Lys570Glu
3/8685 0.00017 3 non_synonymous Uncertain Significance
View 7 128637511 128637511 T > C TNPO3 TNPO3 TNPO3 NR_034053.2:n.1654A>G
NM_001191028.2:c.1090A>G
NM_012470.3:c.1090A>G
NP_001177957.2:p.Ile364Val
NP_036602.1:p.Ile364Val
2/8685 0.00012 3 non_synonymous Uncertain Significance
View 7 129519477 129519477 A > G UBE2H UBE2H UBE2H NM_003344.3:c.136T>C
NM_182697.2:c.136T>C
NM_001202498.1:c.-75T>C
NP_003335.1:p.Tyr46His
NP_874356.1:p.Tyr46His
1/8646 6.0e-05 3 non_synonymous Uncertain Significance
View 7 130038845 130038845 A > G CEP41 CEP41 CEP41 CEP41 NM_001257159.1:c.745T>C
NM_001257158.1:c.793T>C
NM_018718.2:c.1009T>C
NR_046443.1:n.1177T>C
NP_001244088.1:p.Ser249Pro
NP_001244087.1:p.Ser265Pro
NP_061188.1:p.Ser337Pro
17/8685 0.00098 3 non_synonymous Uncertain Significance
View 7 130044398 130044398 C > T CEP41 CEP41 CEP41 CEP41 NM_001257159.1:c.374+7G>A
NM_001257158.1:c.422+7G>A
NM_018718.2:c.422+7G>A
NR_046443.1:n.590+83G>A
1/8685 6.0e-05 3 five_prime_intronic Uncertain Significance
View 7 130044507 130044507 G > C CEP41 CEP41 CEP41 CEP41 NM_001257159.1:c.272C>G
NM_001257158.1:c.320C>G
NM_018718.2:c.320C>G
NR_046443.1:n.564C>G
NP_001244088.1:p.Ala91Gly
NP_001244087.1:p.Ala107Gly
NP_061188.1:p.Ala107Gly
4/8685 0.00023 3 non_synonymous Uncertain Significance
View 7 143039587 143039587 T > G CLCN1 CLCN1 ENST00000343257.2:c.1919T>G
NR_046453.1:n.1859T>G
ENSP00000339867.2:p.Val640Gly
1/8685 6.0e-05 3 Uncertain Significance
View 7 145814041 145814041 G > A CNTNAP2 NM_014141.5:c.73G>A
NP_054860.1:p.Ala25Thr
31/8685 0.00178 3 non_synonymous Uncertain Significance
View 7 146741107 146741107 C > T CNTNAP2 NM_014141.5:c.511C>T
NP_054860.1:p.Arg171Cys
3/8685 0.00017 3 Uncertain Significance
View 7 146825882 146825882 A > G CNTNAP2 NM_014141.5:c.1037A>G
NP_054860.1:p.Asn346Ser
3/8685 0.00017 3 non_synonymous Uncertain Significance
View 7 147183065 147183065 C > T CNTNAP2 NM_014141.5:c.1709C>T
NP_054860.1:p.Ser570Leu
3/8685 0.00017 3 non_synonymous Uncertain Significance
View 7 148523708 148523708 C > T EZH2 EZH2 EZH2 EZH2 EZH2 NM_152998.2:c.628G>A
NM_001203249.1:c.718G>A
NM_004456.4:c.745G>A
NM_001203247.1:c.745G>A
NM_001203248.1:c.718G>A
NP_694543.1:p.Glu210Lys
NP_001190178.1:p.Glu240Lys
NP_004447.2:p.Glu249Lys
NP_001190176.1:p.Glu249Lys
NP_001190177.1:p.Glu240Lys
1/8685 6.0e-05 3 non_synonymous Uncertain Significance
View 7 154172047 154172049 AAG > - DPP6 DPP6 DPP6 ENST00000377770.3:c.388_390del
ENST00000332007.3:c.202_204del
ENST00000404039.1:c.196_198del
ENSP00000367001.3:p.Lys130del
ENSP00000328226.3:p.Lys68del
ENSP00000385578.1:p.Lys66del
1/8685 6.0e-05 3 in_frame_indel Uncertain Significance
View 8 1719594 1719594 A > G CLN8 NM_018941.3:c.374A>G
NP_061764.2:p.Asn125Ser
22/10521 0.00105 3 Uncertain Significance
View 8 1904983 1904983 C > T ARHGEF10 NM_014629.2:c.3589C>T
NP_055444.2:p.His1197Tyr
5/8685 0.00035 3 non_synonymous Uncertain Significance
View 8 15508269 15508269 C > G TUSC3 TUSC3 NM_006765.3:c.372C>G
NM_178234.2:c.372C>G
NP_006756.2:p.Asn124Lys
NP_839952.1:p.Asn124Lys
3/10521 0.00014 3 non_synonymous Uncertain Significance
View 8 21983099 21983099 G > A HR HR NM_018411.4:c.1552C>T
NM_005144.4:c.1552C>T
NP_060881.2:p.Arg518Trp
NP_005135.2:p.Arg518Trp
5/8685 0.00029 3 non_synonymous Uncertain Significance
View 8 22020159 22020159 G > A SFTPC SFTPC SFTPC NM_001172410.1:c.115G>A
NM_003018.3:c.115G>A
NM_001172357.1:c.115G>A
NP_001165881.1:p.Val39Met
NP_003009.2:p.Val39Met
NP_001165828.1:p.Val39Met
4/10521 0.00019 1 Uncertain Significance
View 8 27320726 27320726 C > T CHRNA2 NM_000742.3:c.1234G>A
NP_000733.2:p.Glu412Lys
9/8685 0.00052 3 non_synonymous Uncertain Significance
View 8 27634402 27634402 C > T ESCO2 NM_001017420.2:c.577C>T
NP_001017420.1:p.Arg193Trp
24/10521 0.00119 3 non_synonymous Uncertain Significance
View 8 38275752 38275752 C > T FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 NM_023106.2:c.1151G>A
NM_001174063.1:c.1418G>A
NM_023105.2:c.1157G>A
NM_001174066.1:c.1157G>A
NM_001174067.1:c.1517G>A
NM_001174064.1:c.1394G>A
NM_001174065.1:c.1418G>A
NM_015850.3:c.1418G>A
NM_023110.2:c.1424G>A
NP_075594.1:p.Arg384Gln
NP_001167534.1:p.Arg473Gln
NP_075593.1:p.Arg386Gln
NP_001167537.1:p.Arg386Gln
NP_001167538.1:p.Arg506Gln
NP_001167535.1:p.Arg465Gln
NP_001167536.1:p.Arg473Gln
NP_056934.2:p.Arg473Gln
NP_075598.2:p.Arg475Gln
3/8685 0.00017 1 Uncertain Significance
View 8 38282064 38282064 A > G FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 NM_023106.2:c.626T>C
NM_001174063.1:c.899T>C
NM_023105.2:c.632T>C
NM_001174066.1:c.632T>C
NM_001174067.1:c.992T>C
NM_001174064.1:c.875T>C
NM_001174065.1:c.893T>C
NM_015850.3:c.893T>C
NM_023110.2:c.899T>C
NP_075594.1:p.Ile209Thr
NP_001167534.1:p.Ile300Thr
NP_075593.1:p.Ile211Thr
NP_001167537.1:p.Ile211Thr
NP_001167538.1:p.Ile331Thr
NP_001167535.1:p.Ile292Thr
NP_001167536.1:p.Ile298Thr
NP_056934.2:p.Ile298Thr
NP_075598.2:p.Ile300Thr
14/8685 0.00081 3 Uncertain Significance
View 8 41789998 41789998 T > C KAT6A KAT6A KAT6A NM_006766.3:c.5740A>G
NM_001099412.1:c.5740A>G
NM_001099413.1:c.5740A>G
NP_006757.2:p.Met1914Val
NP_001092882.1:p.Met1914Val
NP_001092883.1:p.Met1914Val
6/8685 0.00035 3 non_synonymous Uncertain Significance
View 8 41790246 41790246 T > C KAT6A KAT6A KAT6A NM_006766.3:c.5492A>G
NM_001099412.1:c.5492A>G
NM_001099413.1:c.5492A>G
NP_006757.2:p.Asn1831Ser
NP_001092882.1:p.Asn1831Ser
NP_001092883.1:p.Asn1831Ser
1/8685 6.0e-05 3 non_synonymous Uncertain Significance
View 8 41791383 41791383 G > A KAT6A KAT6A KAT6A NM_006766.3:c.4355C>T
NM_001099412.1:c.4355C>T
NM_001099413.1:c.4355C>T
NP_006757.2:p.Ala1452Val
NP_001092882.1:p.Ala1452Val
NP_001092883.1:p.Ala1452Val
1/8685 6.0e-05 3 non_synonymous Uncertain Significance
View 8 41791756 41791756 T > C KAT6A KAT6A KAT6A NM_006766.3:c.3982A>G
NM_001099412.1:c.3982A>G
NM_001099413.1:c.3982A>G
NP_006757.2:p.Lys1328Glu
NP_001092882.1:p.Lys1328Glu
NP_001092883.1:p.Lys1328Glu
1/8685 6.0e-05 3 non_synonymous Uncertain Significance
View 8 41798940 41798940 T > C KAT6A KAT6A KAT6A NM_006766.3:c.2459A>G
NM_001099412.1:c.2459A>G
NM_001099413.1:c.2459A>G
NP_006757.2:p.Glu820Gly
NP_001092882.1:p.Glu820Gly
NP_001092883.1:p.Glu820Gly
2/8685 0.00012 3 non_synonymous Uncertain Significance
View 8 48691175 48691175 G > C PRKDC PRKDC ENST00000338368.3:c.11602C>G
ENST00000314191.2:c.11695C>G
ENSP00000345182.3:p.Leu3868Val
ENSP00000313420.2:p.Leu3899Val
14/8685 0.00081 3 Uncertain Significance
View 8 48873709 48873709 C > G MCM4 MCM4 NM_182746.2:c.5C>G
NM_005914.3:c.5C>G
NP_877423.1:p.Ser2Trp
NP_005905.2:p.Ser2Trp
2/8685 0.00012 3 non_synonymous Uncertain Significance
View 8 51569539 51569539 T > G SNTG1 NM_018967.2:c.920T>G
NP_061840.1:p.Phe307Cys
1/8685 6.0e-05 3 non_synonymous Uncertain Significance
View 8 61655037 61655037 A > G CHD7 NM_017780.3:c.1046A>G
NP_060250.2:p.Asn349Ser
2/8685 0.00012 3 non_synonymous Uncertain Significance
Displaying 1,100 through 1,150 of 1,329 variants