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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 5 147204334 147204335 - > AAAA SPINK1 NM_003122.3:c.195-69_195-66dupTTTT
210/11969 0.00881 1 Risk allele Pathogenic
View 5 147207678 147207678 T > C SPINK1 NM_003122.3:c.101A>G
NP_003113.2:p.Asn34Ser
222/13144 0.00844 1 Risk allele Pathogenic
View 5 147209230 147209230 A > G SPINK1 NM_003122.3:c.56-37T>C
206/11965 0.00861 1 Pathogenic
View 5 147503434 147503434 A > - SPINK5 SPINK5 SPINK5 NM_006846.3:c.2579del
NM_001127698.1:c.2579del
NM_001127699.1:c.2579del
NP_006837.2:p.Lys860SerfsTer64
NP_001121170.1:p.Lys860SerfsTer82
NP_001121171.1:p.Lys860SerfsTer?
2/13144 8.0e-05 1 Pathogenic
View 5 148406653 148406653 T > C SH3TC2 NM_024577.3:c.2642A>G
NP_078853.2:p.Asn881Ser
2/13144 8.0e-05 1 Pathogenic
View 5 149359991 149359991 C > T SLC26A2 NM_000112.3:c.835C>T
NP_000103.2:p.Arg279Trp
37/14969 0.00124 1 Pathogenic
View 5 149361113 149361113 T > A SLC26A2 NM_000112.3:c.1957T>A
NP_000103.2:p.Cys653Ser
2/14969 7.0e-05 1 Pathogenic
View 5 149756128 149756129 - > T TCOF1 TCOF1 TCOF1 TCOF1 TCOF1 TCOF1 NM_001195141.1:c.2286dupT
NM_000356.3:c.2055dupT
NM_001008657.2:c.2286dupT
NM_001135244.1:c.2286dupT
NM_001135243.1:c.2286dupT
NM_001135245.1:c.2055dupT
NP_001182070.1:p.Glu763Ter
NP_000347.2:p.Glu686Ter
NP_001008657.1:p.Glu763Ter
NP_001128716.1:p.Glu763Ter
NP_001128715.1:p.Glu763Ter
NP_001128717.1:p.Glu686Ter
1/13144 4.0e-05 1 curation Pathogenic
View 5 171821626 171821626 G > A SH3PXD2B NM_001017995.2:c.250C>T
NP_001017995.1:p.Arg84Ter
2/13144 8.0e-05 1 Pathogenic
View 5 176638109 176638109 A > - NSD1 NSD1 NM_172349.2:c.1902del
NM_022455.4:c.2709del
NP_758859.1:p.Asp635ThrfsTer8
NP_071900.2:p.Asp904ThrfsTer8
1/13843 4.0e-05 1 curation Pathogenic
View 5 177421147 177421148 CT > - PROP1 ENST00000308304.2:c.301_302del
ENSP00000311290.2:p.Leu102CysfsTer8
8/14969 0.00027 1 Pathogenic
View 6 24505099 24505099 G > A ALDH5A1 ALDH5A1 NM_001080.3:c.612G>A
NM_170740.1:c.612G>A
NP_001071.1:p.Trp204Ter
NP_733936.1:p.Trp204Ter
4/15408 0.00013 1 Pathogenic
View 6 24515471 24515471 G > A ALDH5A1 ALDH5A1 NM_001080.3:c.803G>A
NM_170740.1:c.842G>A
NP_001071.1:p.Gly268Glu
NP_733936.1:p.Gly281Glu
6/15408 0.00019 1 Pathogenic
View 6 31930271 31930271 C > T SKIV2L NM_006929.4:c.1120C>T
NP_008860.4:p.Arg374Ter
1/13144 4.0e-05 1 curation Pathogenic
View 6 31936654 31936654 C > T SKIV2L NM_006929.4:c.3187C>T
NP_008860.4:p.Arg1063Ter
3/13144 0.00011 1 Pathogenic
View 6 33169076 33169076 G > A SLC39A7 SLC39A7 NM_006979.2:c.54G>A
NM_001077516.1:c.54G>A
NP_008910.2:p.Trp18Ter
NP_001070984.1:p.Trp18Ter
2/13105 8.0e-05 1 premature_stop Pathogenic
View 6 43488700 43488700 G > A POLR1C NM_203290.2:c.836G>A
NP_976035.1:p.Arg279Gln
7/13144 0.00027 1 Pathogenic
View 6 51612855 51612855 A > - PKHD1 PKHD1 NM_170724.2:c.9559del
NM_138694.3:c.9559del
NP_733842.2:p.Ser3187LeufsTer33
NP_619639.3:p.Ser3187LeufsTer33
1/14969 3.0e-05 1 ClinVar pathogenic variant Pathogenic
View 6 51612884 51612884 A > G PKHD1 PKHD1 NM_170724.2:c.9530T>C
NM_138694.3:c.9530T>C
NP_733842.2:p.Ile3177Thr
NP_619639.3:p.Ile3177Thr
4/14969 0.00013 1 Pathogenic
View 6 51799117 51799117 C > T PKHD1 PKHD1 NM_170724.2:c.5912G>A
NM_138694.3:c.5912G>A
NP_733842.2:p.Gly1971Asp
NP_619639.3:p.Gly1971Asp
6/14969 0.0002 1 Pathogenic
View 6 51910980 51910980 G > A PKHD1 PKHD1 NM_170724.2:c.2414C>T
NM_138694.3:c.2414C>T
NP_733842.2:p.Pro805Leu
NP_619639.3:p.Pro805Leu
3/14969 0.0001 1 Pathogenic
View 6 51947999 51947999 G > A PKHD1 PKHD1 NM_170724.2:c.107C>T
NM_138694.3:c.107C>T
NP_733842.2:p.Thr36Met
NP_619639.3:p.Thr36Met
11/14969 0.00037 1 Pathogenic
View 6 70411362 70411362 C > - LMBRD1 NM_018368.3:c.1056del
NP_060838.3:p.Asn353IlefsTer18
27/13144 0.00103 1 Pathogenic
View 6 70990736 70990736 G > A COL9A1 COL9A1 NM_001851.4:c.883C>T
NM_078485.3:c.154C>T
NP_001842.3:p.Arg295Ter
NP_511040.2:p.Arg52Ter
2/13144 0.00011 1 Pathogenic
View 6 79700630 79700634 TTTTC > - PHIP ENST00000275034.4:c.2270_2274del
ENSP00000275034.3:p.Arg757ThrfsTer9
6/13144 0.00023 2 frameshift Pathogenic
View 6 79770396 79770396 C > T PHIP ENST00000275034.4:c.329G>A
ENSP00000275034.3:p.Arg110His
1/13144 4.0e-05 3 non_synonymous Pathogenic
View 6 99323351 99323352 CA > - FBXL4 FBXL4 FBXL4 NM_012160.4:c.1641_1642del
NR_103836.1:n.1686_1687del
NM_001278716.1:c.1641_1642del
NP_036292.2:p.Cys547Ter
NP_001265645.1:p.Cys547Ter
2/13144 8.0e-05 1 Pathogenic
View 6 112390619 112390620 - > AC WISP3 WISP3 NM_198239.1:c.916_917dupAC
NM_003880.3:c.862_863dupAC
NP_937882.1:p.Gln307LeufsTer25
NP_003871.1:p.Gln289LeufsTer25
4/13144 0.00015 1 Pathogenic
View 6 129486817 129486817 C > T LAMA2 ENST00000421865.2:c.1303C>T
ENSP00000400365.2:p.Arg435Ter
1/14969 3.0e-05 1 Pathogenic
View 6 129714215 129714215 G > - LAMA2 ENST00000421865.2:c.5260del
ENSP00000400365.2:p.Val1754Ter
2/14969 7.0e-05 1 Pathogenic
View 6 137219351 137219351 T > A PEX7 NM_000288.3:c.875T>A
NP_000279.1:p.Leu292Ter
30/14969 0.001 1 Pathogenic
View 6 138197225 138197225 T > C TNFAIP3 TNFAIP3 TNFAIP3 NM_001270507.1:c.727T>C
NM_001270508.1:c.727T>C
NM_006290.3:c.727T>C
NP_001257436.1:p.Cys243Arg
NP_001257437.1:p.Cys243Arg
NP_006281.1:p.Cys243Arg
2/13144 8.0e-05 1 curation Pathogenic
View 6 157527977 157527978 - > T ARID1B ARID1B NM_017519.2:c.5664dupT
NM_020732.3:c.5703dupT
NP_059989.2:p.Lys1889Ter
NP_065783.3:p.Lys1902Ter
1/13144 4.0e-05 1 curation Pathogenic
View 6 158535875 158535876 - > AG SERAC1 SERAC1 NR_073096.1:n.1561_1562dupCT
NM_032861.3:c.1628_1629dupCT
NP_116250.3:p.Val544LeufsTer43
2/13144 8.0e-05 1 Pathogenic
View 6 162206852 162206852 G > A PRKN PRKN PRKN NM_013988.2:c.376C>T
NM_013987.2:c.739C>T
NM_004562.2:c.823C>T
NP_054643.2:p.Arg126Trp
NP_054642.2:p.Arg247Trp
NP_004553.2:p.Arg275Trp
63/13144 0.0024 1 Pathogenic
View 7 2583388 2583389 - > T BRAT1 NM_152743.3:c.638dupA
NP_689956.2:p.Val214GlyfsTer189
8/13144 0.0003 1 Pathogenic
View 7 2584678 2584679 - > T BRAT1 NM_152743.3:c.294dupA
NP_689956.2:p.Leu99ThrfsTer92
11/13144 0.00042 1 Pathogenic
View 7 6026457 6026457 T > A PMS2 PMS2 ENST00000265849.7:c.1939A>T
NR_003085.2:n.2021A>T
ENSP00000265849.7:p.Lys647Ter
2/13144 8.0e-05 1 Pathogenic
View 7 31016156 31016160 GGACT > - GHRHR NM_000823.3:c.1089_1093del
NP_000814.2:p.Leu364PhefsTer21
7/13144 0.00027 1 Pathogenic
View 7 33423364 33423367 AAAC > - BBS9 BBS9 BBS9 BBS9 NM_014451.3:c.1757_1760del
NM_198428.2:c.1877_1880del
NM_001033605.1:c.1862_1865del
NM_001033604.1:c.1772_1775del
NP_055266.2:p.Lys586ArgfsTer22
NP_940820.1:p.Lys626ArgfsTer22
NP_001028777.1:p.Lys621ArgfsTer22
NP_001028776.1:p.Lys591ArgfsTer22
5/13144 0.00019 1 Pathogenic
View 7 42004239 42004240 - > A GLI3 NM_000168.5:c.4431dupT
NP_000159.3:p.Glu1478Ter
1/13144 4.0e-05 1 Pathogenic
View 7 42088089 42088089 C > G GLI3 NM_000168.5:c.679+1G>C
1/11983 4.0e-05 1 Pathogenic
View 7 44104896 44104896 C > T PGAM2 NM_000290.3:c.233G>A
NP_000281.2:p.Trp78Ter
22/13144 0.00084 1 Pathogenic
View 7 44186188 44186188 A > G GCK GCK GCK NM_000162.3:c.893T>C
NM_033507.1:c.896T>C
NM_033508.1:c.890T>C
NP_000153.1:p.Met298Thr
NP_277042.1:p.Met299Thr
NP_277043.1:p.Met297Thr
1/13144 4.0e-05 1 Pathogenic
View 7 44187325 44187325 A > G GCK GCK GCK NM_000162.3:c.787T>C
NM_033507.1:c.790T>C
NM_033508.1:c.784T>C
NP_000153.1:p.Ser263Pro
NP_277042.1:p.Ser264Pro
NP_277043.1:p.Ser262Pro
2/13144 8.0e-05 1 Pathogenic
View 7 44189575 44189575 C > T GCK GCK GCK NM_000162.3:c.572G>A
NM_033507.1:c.575G>A
NM_033508.1:c.569G>A
NP_000153.1:p.Arg191Gln
NP_277042.1:p.Arg192Gln
NP_277043.1:p.Arg190Gln
1/13144 4.0e-05 1 Pathogenic
View 7 44192937 44192937 C > A GCK GCK GCK NM_000162.3:c.171G>T
NM_033507.1:c.174G>T
NM_033508.1:c.168G>T
NP_000153.1:p.Met57Ile
NP_277042.1:p.Met58Ile
NP_277043.1:p.Met56Ile
1/13144 4.0e-05 1 Pathogenic
View 7 45077941 45077941 C > - CCM2 CCM2 CCM2 CCM2 CCM2 NM_001029835.2:c.185del
NM_001167934.1:c.31-25574del
NM_001167935.1:c.122del
NR_030770.1:n.204del
NM_031443.3:c.122del
NP_001025006.1:p.Pro62LeufsTer19
NP_001161407.1:p.Pro41LeufsTer19
NP_113631.1:p.Pro41LeufsTer19
1/13144 4.0e-05 1 ClinVar pathogenic variant Pathogenic
View 7 47870812 47870813 CA > - PKD1L1 NM_138295.3:c.6473+2_6473+3del
30/11988 0.00125 1 Pathogenic
View 7 65547918 65547918 G > T ASL ASL ASL ASL NM_000048.3:c.343G>T
NM_001024943.1:c.343G>T
NM_001024944.1:c.343G>T
NM_001024946.1:c.343G>T
NP_000039.2:p.Asp115Tyr
NP_001020114.1:p.Asp115Tyr
NP_001020115.1:p.Asp115Tyr
NP_001020117.1:p.Asp115Tyr
1/14969 3.0e-05 1 Pathogenic
Displaying 550 through 600 of 878 variants