"Natera, Inc."[submitter] AND "MKS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 971588	NM_017777.4(MKS1):c.1671G>A (p.Leu557=)	MKS1 (G530S)	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GLikely 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 850615	NM_017777.4(MKS1):c.1657C>T (p.Pro553Ser)	MKS1 (P553S +2 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 194871	NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu)	MKS1 (P547L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +7 more	GUncertain significance
Select item 502021	NM_017777.4(MKS1):c.1627C>T (p.Arg543Trp)	MKS1 (R543W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1037568	NM_017777.4(MKS1):c.1613G>T (p.Arg538Leu)	MKS1 (R335L +1 more)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +1 more	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)	Meckel-Gruber syndrome +6 more	GUncertain significance
Select item 970114	NM_017777.4(MKS1):c.1610G>A (p.Arg537His)	MKS1 (R537H +1 more)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 220047	NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys)	MKS1 (R537C +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 13 +5 more	GConflicting classifications of pathogenicity
Select item 397617	NM_017777.4(MKS1):c.1607G>A (p.Arg536Gln)	MKS1 (R536Q +1 more)	Single nucleotide variant (missense variant +2 more)	MKS1-related disorder +4 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)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 554287	NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter)	MKS1 (R534* +2 more)	Single nucleotide variant (nonsense +2 more)	Bardet-Biedl syndrome 13 +4 more	GConflicting classifications of pathogenicity
Select item 891162	NM_017777.4(MKS1):c.1589-3C>T	MKS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 13 +3 more	GUncertain significance
Select item 1013736	NM_017777.4(MKS1):c.1567A>G (p.Ser523Gly)	MKS1 (E495G +2 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 946624	NM_017777.4(MKS1):c.1544G>T (p.Arg515Leu)	MKS1 (R312L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 502797	NM_017777.4(MKS1):c.1544G>A (p.Arg515His)	MKS1 (R515H +2 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +6 more	GUncertain significance
Select item 324158	NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys)	MKS1 (R515C +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 13 +5 more	GUncertain significance
Select item 836218	NM_017777.4(MKS1):c.1538T>C (p.Leu513Ser)	MKS1 (W441R +2 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 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)	Familial aplasia of the vermis +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)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 1058742	NM_017777.4(MKS1):c.1507A>G (p.Ser503Gly)	MKS1 (E475G +2 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1023406	NM_017777.4(MKS1):c.1477C>A (p.Leu493Met)	MKS1 (L290M +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 56617	NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)	MKS1 (T282fs +1 more)	Duplication (frameshift variant +1 more)	Familial aplasia of the vermis +6 more	GPathogenic/Likely pathogenic
Select item 211502	NM_017777.4(MKS1):c.1436G>A (p.Arg479His)	MKS1 (R479H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +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 656438	NM_017777.4(MKS1):c.1414C>G (p.Arg472Gly)	MKS1 (R269G +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 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)	MKS1-related disorder +5 more	GUncertain significance
Select item 596972	NM_017777.4(MKS1):c.1408-3C>T	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 1036798	NM_017777.4(MKS1):c.1408-5C>T	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 188400	NM_017777.4(MKS1):c.1408-34_1408-6del	MKS1	Deletion (intron variant)	Meckel syndrome, type 1 +7 more	GPathogenic
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 1040131	NM_017777.4(MKS1):c.1387C>T (p.Arg463Trp)	MKS1 (R260W +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
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 +4 more	GUncertain significance
Select item 291283	NM_017777.4(MKS1):c.1273+6C>T	MKS1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 695906	NM_017777.4(MKS1):c.1260G>A (p.Leu420=)	MKS1	Single nucleotide variant (synonymous variant)	MKS1-related disorder +3 more	GLikely benign
Select item 700552	NM_017777.4(MKS1):c.1233T>C (p.Arg411=)	MKS1	Single nucleotide variant (synonymous variant)	MKS1-related disorder +2 more	GLikely benign
Select item 645921	NM_017777.4(MKS1):c.1232G>A (p.Arg411His)	MKS1 (R208H +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 499986	NM_017777.4(MKS1):c.1213G>A (p.Asp405Asn)	MKS1 (D405N +1 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 13 +3 more	GConflicting classifications of pathogenicity
Select item 698586	NM_017777.4(MKS1):c.1209G>A (p.Ser403=)	MKS1	Single nucleotide variant (synonymous variant)	Meckel syndrome, type 1 +3 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)	Meckel-Gruber syndrome +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 +3 more	GUncertain significance
Select item 287203	NM_017777.4(MKS1):c.1176G>A (p.Pro392=)	MKS1	Single nucleotide variant (synonymous variant)	MKS1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 219658	NM_017777.4(MKS1):c.1175C>T (p.Pro392Leu)	MKS1 (P392L +1 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 13 +5 more	GUncertain significance
Select item 409981	NM_017777.4(MKS1):c.1134A>G (p.Glu378=)	MKS1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +4 more	GLikely benign
Select item 965044	NM_017777.4(MKS1):c.1127C>T (p.Thr376Met)	MKS1 (T376M +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 938307	NM_017777.4(MKS1):c.1121C>T (p.Pro374Leu)	MKS1 (P374L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 217677	NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)	MKS1 (S372del +1 more)	Deletion (inframe_deletion)	Familial aplasia of the vermis +9 more	GPathogenic/Likely pathogenic
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 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 701003	NM_017777.4(MKS1):c.1024+10A>G	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
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 969878	NM_017777.4(MKS1):c.1007T>C (p.Val336Ala)	MKS1 (V336A +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 193905	NM_017777.4(MKS1):c.994G>A (p.Val332Ile)	MKS1 (V332I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 281639	NM_017777.4(MKS1):c.959-4G>A	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1057511	NM_017777.4(MKS1):c.955G>A (p.Val319Ile)	MKS1 (V116I +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 1 +5 more	GUncertain significance
Select item 546363	NM_017777.4(MKS1):c.904G>A (p.Asp302Asn)	MKS1 (D302N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 837994	NM_017777.4(MKS1):c.896T>C (p.Val299Ala)	MKS1 (V299A +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 260888	NM_017777.4(MKS1):c.874A>G (p.Lys292Glu)	MKS1 (K292E +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 863111	NM_017777.4(MKS1):c.858+6C>T	MKS1	Single nucleotide variant (intron variant)	MKS1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 445724	NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)	MKS1 (D286G +1 more)	Single nucleotide variant (missense variant)	MKS1-related disorder +7 more	GUncertain significance
Select item 862934	NM_017777.4(MKS1):c.854A>G (p.Lys285Arg)	MKS1 (K285R +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 935501	NM_017777.4(MKS1):c.847G>C (p.Val283Leu)	MKS1 (V283L +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 198885	NM_017777.4(MKS1):c.842G>C (p.Arg281Pro)	MKS1 (R281P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 940351	NM_017777.4(MKS1):c.836G>A (p.Arg279Gln)	MKS1 (R76Q +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 964761	NM_017777.4(MKS1):c.835C>T (p.Arg279Trp)	MKS1 (R279W +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 959436	NM_017777.4(MKS1):c.821C>T (p.Pro274Leu)	MKS1 (P274L +1 more)	Single nucleotide variant (missense variant)	MKS1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1060726	NM_017777.4(MKS1):c.817C>G (p.Gln273Glu)	MKS1 (Q273E +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1074274	NM_017777.4(MKS1):c.811del (p.His271fs)	MKS1 (H271fs +1 more)	Deletion (frameshift variant)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 851430	NM_017777.4(MKS1):c.811C>G (p.His271Asp)	MKS1 (H271D +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 218743	NM_017777.4(MKS1):c.811C>A (p.His271Asn)	MKS1 (H271N +1 more)	Single nucleotide variant (missense variant)	MKS1-related disorder +8 more	GUncertain significance
Select item 1058335	NM_017777.4(MKS1):c.791C>T (p.Thr264Met)	MKS1 (T264M +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 1 +4 more	GUncertain significance
Select item 546082	NM_017777.4(MKS1):c.763G>C (p.Gly255Arg)	MKS1 (G255R +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 700059	NM_017777.4(MKS1):c.729G>A (p.Thr243=)	MKS1	Single nucleotide variant (synonymous variant)	MKS1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 324165	NM_017777.4(MKS1):c.644+8G>T	MKS1	Single nucleotide variant (intron variant)	not provided +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 949113	NM_017777.4(MKS1):c.634C>A (p.Pro212Thr)	MKS1 (P212T +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1000896	NM_017777.4(MKS1):c.586G>A (p.Val196Ile)	MKS1 (V196I)	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 501712	NM_017777.4(MKS1):c.579C>G (p.Asn193Lys)	MKS1 (N193K)	Single nucleotide variant (5 prime UTR variant +1 more)	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)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 291155	NM_017777.4(MKS1):c.496C>T (p.Arg166Trp)	MKS1 (R166W)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 324166	NM_017777.4(MKS1):c.491G>A (p.Arg164His)	MKS1 (R164H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 13 +5 more	GConflicting classifications of pathogenicity
Select item 961598	NM_017777.4(MKS1):c.473G>A (p.Arg158Gln)	MKS1 (R158Q)	Single nucleotide variant (missense variant +1 more)	MKS1-related disorder +2 more	GUncertain significance
Select item 286541	NM_017777.4(MKS1):c.469G>A (p.Glu157Lys)	MKS1 (E157K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1043757	NM_017777.4(MKS1):c.428G>T (p.Arg143Ile)	MKS1 (R143I)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 191084	NM_017777.4(MKS1):c.417+1G>A	MKS1	Single nucleotide variant (splice donor variant)	Familial aplasia of the vermis +3 more	GPathogenic/Likely pathogenic
Select item 530895	NM_017777.4(MKS1):c.371G>A (p.Arg124Gln)	MKS1 (R124Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	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)	not specified +7 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)	Bardet-Biedl syndrome 13 +2 more	GPathogenic
Select item 853823	NM_017777.4(MKS1):c.322C>T (p.Arg108Cys)	MKS1 (R108C)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +7 more	GConflicting classifications of pathogenicity
Select item 530896	NM_017777.4(MKS1):c.314A>C (p.Tyr105Ser)	MKS1 (Y105S)	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
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 1023844	NM_017777.4(MKS1):c.229G>A (p.Val77Met)	MKS1 (V77M)	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 196477	NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)	MKS1 (D71E)	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel syndrome, type 1 +6 more	GConflicting classifications of pathogenicity
Select item 970159	NM_017777.4(MKS1):c.200G>A (p.Arg67His)	MKS1 (R67H)	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 461763	NM_017777.4(MKS1):c.199C>T (p.Arg67Cys)	MKS1 (R67C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 550954	NM_017777.4(MKS1):c.190+2T>C	MKS1	Single nucleotide variant (splice donor variant)	Joubert syndrome 28 +5 more	GLikely pathogenic
Select item 461762	NM_017777.4(MKS1):c.128C>G (p.Pro43Arg)	MKS1 (P43R)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 281544	NM_017777.4(MKS1):c.118C>T (p.His40Tyr)	MKS1 (H40Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity

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