"GeneDx"[submitter] AND "MKS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 1277626	NM_017777.4(MKS1):c.*351del	MKS1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 324157	NM_017777.4(MKS1):c.*75C>T	MKS1 (R558C)	Single nucleotide variant (3 prime UTR variant +1 more)	Meckel syndrome, type 1 +2 more	GBenign
Select item 1187069	NM_017777.4(MKS1):c.*38del	MKS1 (R545fs)	Deletion (3 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 126272	NM_017777.4(MKS1):c.1671G>C (p.Leu557=)	MKS1 (G530R)	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome 13 +5 more	GBenign
Select item 194871	NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu)	MKS1 (P547L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +6 more	GUncertain significance
Select item 1309103	NM_017777.4(MKS1):c.1628G>A (p.Arg543Gln)	MKS1 (R340Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 936361	NM_017777.4(MKS1):c.1613G>A (p.Arg538His)	MKS1 (R538H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +6 more	GUncertain significance
Select item 2150162	NM_017777.4(MKS1):c.1612C>T (p.Arg538Cys)	MKS1 (P510L +2 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 397617	NM_017777.4(MKS1):c.1607G>A (p.Arg536Gln)	MKS1 (R536Q +1 more)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 183012	NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)	MKS1 (R534Q +1 more)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +6 more	GConflicting classifications of pathogenicity
Select item 502797	NM_017777.4(MKS1):c.1544G>A (p.Arg515His)	MKS1 (R515H +2 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 1 +5 more	GUncertain significance
Select item 948526	NM_017777.4(MKS1):c.1534G>A (p.Val512Met)	MKS1 (V512M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1197981	NM_017777.4(MKS1):c.1529G>A (p.Arg510Gln)	MKS1 (G438R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1393415	NM_017777.4(MKS1):c.1525A>G (p.Met509Val)	MKS1 (M509V +2 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 555641	NM_017777.4(MKS1):c.1497del (p.Phe499fs)	MKS1 (F296fs +3 more)	Deletion (frameshift variant)	Familial aplasia of the vermis +5 more	GConflicting classifications of pathogenicity
Select item 1393	NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)	MKS1 (C492W +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 13 +9 more	GConflicting classifications of pathogenicity
Select item 2637277	NM_017777.4(MKS1):c.1464C>G (p.Phe488Leu)	MKS1 (F285L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 211502	NM_017777.4(MKS1):c.1436G>A (p.Arg479His)	MKS1 (R479H +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 1 +5 more	GConflicting classifications of pathogenicity
Select item 452237	NM_017777.4(MKS1):c.1424G>A (p.Arg475His)	MKS1 (R475H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 287497	NM_017777.4(MKS1):c.1414C>T (p.Arg472Cys)	MKS1 (R472C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 188400	NM_017777.4(MKS1):c.1408-34_1408-6del	MKS1	Deletion (intron variant)	Bardet-Biedl syndrome 13 +6 more	GPathogenic
Select item 1212429	NM_017777.4(MKS1):c.1408-49G>C	MKS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216973	NM_017777.4(MKS1):c.1408-187G>C	MKS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 286884	NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)	MKS1 (R463Q +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 1 +5 more	GConflicting classifications of pathogenicity
Select item 282351	NM_017777.4(MKS1):c.1363G>C (p.Glu455Gln)	MKS1 (E455Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 281123	NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)	MKS1 (I450T +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 13 +6 more	GConflicting classifications of pathogenicity
Select item 595533	NM_017777.4(MKS1):c.1325T>G (p.Val442Gly)	MKS1 (V442G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 324159	NM_017777.4(MKS1):c.1322C>T (p.Thr441Met)	MKS1 (T441M +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 1 +5 more	GConflicting classifications of pathogenicity
Select item 498841	NM_017777.4(MKS1):c.1298C>T (p.Thr433Met)	MKS1 (T433M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 260880	NM_017777.4(MKS1):c.1273+11G>A	MKS1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 596563	NM_017777.4(MKS1):c.1232G>C (p.Arg411Pro)	MKS1 (R411P +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 217672	NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)	MKS1 (S403L +1 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 13 +4 more	GConflicting classifications of pathogenicity
Select item 943357	NM_017777.4(MKS1):c.1196G>T (p.Cys399Phe)	MKS1 (C196F +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 194418	NM_017777.4(MKS1):c.1196G>C (p.Cys399Ser)	MKS1 (C399S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 387302	NM_017777.4(MKS1):c.1128G>A (p.Thr376=)	MKS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 499522	NM_017777.4(MKS1):c.1113C>A (p.Phe371Leu)	MKS1 (F371L +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 3365536	NM_017777.4(MKS1):c.1095+3A>G	MKS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 852994	NM_017777.4(MKS1):c.1090G>C (p.Ala364Pro)	MKS1 (A364P +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 452238	NM_017777.4(MKS1):c.1055C>T (p.Ser352Leu)	MKS1 (S352L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1211600	NM_017777.4(MKS1):c.1025-95dup	MKS1	Duplication (intron variant)	not provided	GLikely benign
Select item 1262500	NM_017777.4(MKS1):c.1024+219C>T	MKS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683187	NM_017777.4(MKS1):c.1024+128C>T	MKS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1391	NM_017777.4(MKS1):c.1024+1G>A	MKS1	Single nucleotide variant (splice donor variant)	Joubert syndrome 28 +5 more	GPathogenic/Likely pathogenic
Select item 1493036	NM_017777.4(MKS1):c.1024C>T (p.His342Tyr)	MKS1 (H139Y +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 260878	NM_017777.4(MKS1):c.1014G>A (p.Leu338=)	MKS1	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 380847	NM_017777.4(MKS1):c.993C>T (p.Tyr331=)	MKS1	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 56627	NM_017777.4(MKS1):c.958G>A (p.Val320Ile)	MKS1 (V320I +1 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 13 +5 more	GPathogenic/Likely pathogenic
Select item 1312436	NM_017777.4(MKS1):c.916-5C>G	MKS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1203336	NM_017777.4(MKS1):c.915+242G>T	MKS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683184	NM_017777.4(MKS1):c.915+194A>G	MKS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260889	NM_017777.4(MKS1):c.915+19_915+21del	MKS1	Deletion (intron variant)	not specified +3 more	GBenign
Select item 546363	NM_017777.4(MKS1):c.904G>A (p.Asp302Asn)	MKS1 (D302N +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 260888	NM_017777.4(MKS1):c.874A>G (p.Lys292Glu)	MKS1 (K292E +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1295763	NM_017777.4(MKS1):c.859-156G>C	MKS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217435	NM_017777.4(MKS1):c.858+197_858+198del	MKS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1273967	NM_017777.4(MKS1):c.858+90G>A	MKS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 126274	NM_017777.4(MKS1):c.858+9A>G	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +6 more	GBenign
Select item 445724	NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)	MKS1 (D286G +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 554581	NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)	MKS1 (E277* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 13 +5 more	GPathogenic/Likely pathogenic
Select item 851430	NM_017777.4(MKS1):c.811C>G (p.His271Asp)	MKS1 (H271D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 546082	NM_017777.4(MKS1):c.763G>C (p.Gly255Arg)	MKS1 (G255R +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +6 more	GUncertain significance
Select item 674917	NM_017777.4(MKS1):c.750-105T>C	MKS1	Single nucleotide variant (intron variant)	Joubert syndrome 28 +2 more	GBenign
Select item 1188505	NM_017777.4(MKS1):c.749+131G>A	MKS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 380300	NM_017777.4(MKS1):c.749+13A>G	MKS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2580573	NM_017777.4(MKS1):c.727A>G (p.Thr243Ala)	MKS1 (T243A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 678958	NM_017777.4(MKS1):c.645-96A>G	MKS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 324165	NM_017777.4(MKS1):c.644+8G>T	MKS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 13 +4 more	GConflicting classifications of pathogenicity
Select item 1018871	NM_017777.4(MKS1):c.638A>G (p.Tyr213Cys)	MKS1 (Y10C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1329536	NM_017777.4(MKS1):c.613C>T (p.His205Tyr)	MKS1 (H205Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 241188	NM_017777.4(MKS1):c.544G>A (p.Val182Ile)	MKS1 (V182I)	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel-Gruber syndrome +7 more	GConflicting classifications of pathogenicity
Select item 1386478	NM_017777.4(MKS1):c.523G>A (p.Gly175Ser)	MKS1 (G175S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 291146	NM_017777.4(MKS1):c.516-10T>C	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 260885	NM_017777.4(MKS1):c.515+12C>T	MKS1	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 56624	NM_017777.4(MKS1):c.515+1G>A	MKS1	Single nucleotide variant (intron variant +1 more)	Bardet-Biedl syndrome 13 +5 more	GPathogenic/Likely pathogenic
Select item 291155	NM_017777.4(MKS1):c.496C>T (p.Arg166Trp)	MKS1 (R166W)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 1693100	NM_017777.4(MKS1):c.477G>A (p.Met159Ile)	MKS1 (M159I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 56623	NM_017777.4(MKS1):c.472C>T (p.Arg158Ter)	MKS1 (R158*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 1308701	NM_017777.4(MKS1):c.465G>A (p.Leu155=)	MKS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 235814	NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)	MKS1 (R123Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 13 +6 more	GConflicting classifications of pathogenicity
Select item 917949	NM_017777.4(MKS1):c.367C>T (p.Arg123Ter)	MKS1 (R123*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1193827	NM_017777.4(MKS1):c.262-129A>G	MKS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674992	NM_017777.4(MKS1):c.261+67A>G	MKS1	Single nucleotide variant (intron variant)	Joubert syndrome 28 +2 more	GBenign
Select item 497948	NM_017777.4(MKS1):c.261+7C>T	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 515665	NM_017777.4(MKS1):c.252C>G (p.Leu84=)	MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 196477	NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)	MKS1 (D71E)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 13 +5 more	GConflicting classifications of pathogenicity
Select item 461763	NM_017777.4(MKS1):c.199C>T (p.Arg67Cys)	MKS1 (R67C)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 126273	NM_017777.4(MKS1):c.191-44G>A	MKS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 13 +3 more	GBenign
Select item 1229823	NM_017777.4(MKS1):c.190+280G>T	MKS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213356	NM_017777.4(MKS1):c.190+235A>T	MKS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 550954	NM_017777.4(MKS1):c.190+2T>C	MKS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 13 +5 more	GLikely pathogenic
Select item 281544	NM_017777.4(MKS1):c.118C>T (p.His40Tyr)	MKS1 (H40Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 13 +6 more	GConflicting classifications of pathogenicity
Select item 594505	NM_017777.4(MKS1):c.83T>C (p.Val28Ala)	MKS1 (V28A)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1246728	NM_017777.4(MKS1):c.81-40T>G	MKS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683186	NM_017777.4(MKS1):c.81-146G>C	MKS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677783	NM_017777.4(MKS1):c.80+144C>A	MKS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199830	NM_017777.4(MKS1):c.80+64G>A	LOC130061271, MKS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 509351	NM_017777.4(MKS1):c.80+14C>T	LOC130061271, MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 3252509	NM_017777.4(MKS1):c.64C>T (p.Arg22Cys)	LOC130061271, MKS1 (R22C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 324171	NM_017777.4(MKS1):c.27C>T (p.Asp9=)	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel syndrome, type 1 +4 more	GConflicting classifications of pathogenicity

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