ClinVar for MedGen (Select 811346) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064993	NM_018952.5(HOXB6):c.415+5G>C	HOXB-AS3, HOXB6 +1 more	Single nucleotide variant (intron variant)	Meckel syndrome, type 1	GUncertain significance
Select item 2584619	NM_017777.4(MKS1):c.1447A>C (p.Thr483Pro)	MKS1 (T280P +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 28 +3 more	GUncertain significance
Select item 2584618	NM_017777.4(MKS1):c.418-79G>T	MKS1	Single nucleotide variant (intron variant)	Meckel syndrome, type 1 +2 more	GUncertain significance
Select item 2502209	NM_017777.4(MKS1):c.396T>G (p.Asp132Glu)	MKS1 (D132E)	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel syndrome, type 1 +2 more	GUncertain significance
Select item 2502164	NM_017777.4(MKS1):c.1163C>A (p.Ser388Tyr)	MKS1 (S185Y +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 1 +2 more	GUncertain significance
Select item 2498131	NM_017777.4(MKS1):c.1407+66G>A	MKS1	Single nucleotide variant (intron variant)	Meckel syndrome, type 1	GUncertain significance
Select item 1878389	NM_017777.4(MKS1):c.868_871del (p.Arg290fs)	MKS1 (R290fs +1 more)	Deletion (frameshift variant)	Meckel syndrome, type 1	GLikely pathogenic
Select item 1802600	NM_017777.4(MKS1):c.[1115_1117del;1476T>G]	MKS1 (C492W +3 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 13	GLikely pathogenic
Select item 1726823	NM_017777.4(MKS1):c.1383T>A (p.Tyr461Ter)	MKS1 (Y258* +1 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 13 +2 more	GLikely pathogenic
Select item 1726560	NM_017777.4(MKS1):c.992del (p.Tyr331fs)	MKS1 (Y128fs +1 more)	Deletion (frameshift variant)	Bardet-Biedl syndrome 13 +2 more	GLikely pathogenic
Select item 1726316	NM_017777.4(MKS1):c.946_947del (p.Asn316fs)	MKS1 (N113fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 1726037	NM_017777.4(MKS1):c.832G>T (p.Glu278Ter)	MKS1 (E278* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 1726012	NM_017777.4(MKS1):c.727_728del (p.Thr243fs)	MKS1 (T243fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 1726010	NM_017777.4(MKS1):c.715_716del (p.Lys239fs)	MKS1 (K239fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 1725690	NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter)	MKS1 (Q291* +1 more)	Single nucleotide variant (nonsense +1 more)	Meckel syndrome, type 1 +4 more	GPathogenic/Likely pathogenic
Select item 1725139	NM_017777.4(MKS1):c.782G>A (p.Trp261Ter)	MKS1 (W261* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 1725135	NM_017777.4(MKS1):c.1009G>T (p.Glu337Ter)	MKS1 (E134* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 1725016	NM_017777.4(MKS1):c.1032_1035del (p.Ser345fs)	MKS1 (S142fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 1725012	NM_017777.4(MKS1):c.435del (p.Thr146fs)	MKS1 (T146fs)	Deletion (frameshift variant +1 more)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 1724976	NM_017777.4(MKS1):c.537_538del (p.Arg180fs)	MKS1 (R180fs)	Deletion (5 prime UTR variant +1 more)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 1724504	NM_017777.4(MKS1):c.241C>T (p.Gln81Ter)	MKS1 (Q81*)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 13 +2 more	GLikely pathogenic
Select item 1724385	NM_017777.4(MKS1):c.949G>T (p.Gly317Ter)	MKS1 (G114* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 13 +2 more	GLikely pathogenic
Select item 1724356	NM_017777.4(MKS1):c.1411_1412delinsT (p.Glu471fs)	MKS1 (E268fs +1 more)	Indel (frameshift variant +1 more)	Bardet-Biedl syndrome 13 +2 more	GLikely pathogenic
Select item 1723973	NM_017777.4(MKS1):c.632_633del (p.Gly211fs)	MKS1 (G211fs +1 more)	Deletion (frameshift variant)	Bardet-Biedl syndrome 13 +2 more	GLikely pathogenic
Select item 1387955	NM_017777.4(MKS1):c.1071del (p.Cys358fs)	MKS1 (C155fs +1 more)	Deletion (frameshift variant)	Meckel syndrome, type 1 +4 more	GPathogenic/Likely pathogenic
Select item 1379652	NM_017777.4(MKS1):c.658A>T (p.Lys220Ter)	MKS1 (K17* +1 more)	Single nucleotide variant (nonsense)	Meckel syndrome, type 1 +4 more	GPathogenic/Likely pathogenic
Select item 1252059	NM_017777.4(MKS1):c.1126dup (p.Thr376fs)	MKS1 (T173fs +1 more)	Duplication (frameshift variant)	Familial aplasia of the vermis +3 more	GPathogenic/Likely pathogenic
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 1074274	NM_017777.4(MKS1):c.811del (p.His271fs)	MKS1 (H271fs +1 more)	Deletion (frameshift variant)	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 1066722	NM_017777.4(MKS1):c.959-5C>A	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 1066216	NM_017777.4(MKS1):c.1273+1G>C	MKS1	Single nucleotide variant (splice donor variant)	Meckel syndrome, type 1 +4 more	GPathogenic/Likely pathogenic
Select item 1060726	NM_017777.4(MKS1):c.817C>G (p.Gln273Glu)	MKS1 (Q273E +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 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)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1058335	NM_017777.4(MKS1):c.791C>T (p.Thr264Met)	MKS1 (T264M +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 28 +4 more	GUncertain significance
Select item 1057511	NM_017777.4(MKS1):c.955G>A (p.Val319Ile)	MKS1 (V116I +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 28 +4 more	GUncertain significance
Select item 1043757	NM_017777.4(MKS1):c.428G>T (p.Arg143Ile)	MKS1 (R143I)	Single nucleotide variant (missense variant +1 more)	MKS1-related condition +2 more	GUncertain significance
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 1037568	NM_017777.4(MKS1):c.1613G>T (p.Arg538Leu)	MKS1 (R335L +1 more)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1036798	NM_017777.4(MKS1):c.1408-5C>T	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1028054	NM_017777.4(MKS1):c.497G>A (p.Arg166Gln)	MKS1 (R166Q)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 1 +2 more	GUncertain significance
Select item 1023844	NM_017777.4(MKS1):c.229G>A (p.Val77Met)	MKS1 (V77M)	Single nucleotide variant (5 prime UTR 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)	MKS1-related condition +2 more	GUncertain significance
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 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 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 991124	NM_017777.4(MKS1):c.81-3C>A	MKS1	Single nucleotide variant (intron variant)	Meckel syndrome, type 1	GUncertain significance
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 970159	NM_017777.4(MKS1):c.200G>A (p.Arg67His)	MKS1 (R67H)	Single nucleotide variant (5 prime UTR variant +1 more)	MKS1-related condition +2 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)	Familial aplasia of the vermis +1 more	GUncertain significance
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 965044	NM_017777.4(MKS1):c.1127C>T (p.Thr376Met)	MKS1 (T376M +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 961598	NM_017777.4(MKS1):c.473G>A (p.Arg158Gln)	MKS1 (R158Q)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 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 condition +2 more	GConflicting classifications of pathogenicity
Select item 949113	NM_017777.4(MKS1):c.634C>A (p.Pro212Thr)	MKS1 (P212T +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +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 948407	NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter)	MKS1 (Q408* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 13 +4 more	GPathogenic/Likely pathogenic
Select item 946624	NM_017777.4(MKS1):c.1544G>T (p.Arg515Leu)	MKS1 (R312L +2 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 943357	NM_017777.4(MKS1):c.1196G>T (p.Cys399Phe)	MKS1 (C196F +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 940351	NM_017777.4(MKS1):c.836G>A (p.Arg279Gln)	MKS1 (R76Q +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 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 935501	NM_017777.4(MKS1):c.847G>C (p.Val283Leu)	MKS1 (V283L +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 917949	NM_017777.4(MKS1):c.367C>T (p.Arg123Ter)	MKS1 (R123*)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +2 more	GPathogenic
Select item 892462	NM_017777.4(MKS1):c.10A>T (p.Thr4Ser)	LOC130061271, MKS1 (T4S)	Single nucleotide variant (5 prime UTR variant +1 more)	MKS1-related condition +4 more	GUncertain significance
Select item 892359	NM_017777.4(MKS1):c.1408-15A>G	MKS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 13 +3 more	GConflicting classifications of pathogenicity
Select item 892307	NM_017777.4(MKS1):c.*415G>A	MKS1	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 1 +1 more	GUncertain significance
Select item 892306	NM_017777.4(MKS1):c.*472C>G	MKS1	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 1 +1 more	GBenign/Likely benign
Select item 891162	NM_017777.4(MKS1):c.1589-3C>T	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 891098	NM_017777.4(MKS1):c.*594T>G	MKS1	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 1 +1 more	GUncertain significance
Select item 891097	NM_017777.4(MKS1):c.*603T>G	MKS1	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 1 +1 more	GUncertain significance
Select item 890609	NM_017777.4(MKS1):c.1598G>A (p.Arg533His)	MKS1 (R533H +1 more)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 890608	NM_017777.4(MKS1):c.*49C>A	MKS1 (S549Y)	Single nucleotide variant (3 prime UTR variant +1 more)	MKS1-related condition +2 more	GUncertain significance
Select item 889717	NM_017777.4(MKS1):c.407A>C (p.Asn136Thr)	MKS1 (N136T)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 1 +3 more	GUncertain significance
Select item 889716	NM_017777.4(MKS1):c.447C>T (p.Ser149=)	MKS1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 889082	NM_017777.4(MKS1):c.-20C>G	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant)	Meckel syndrome, type 1 +1 more	GUncertain significance
Select item 889081	NM_017777.4(MKS1):c.-15C>G	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant)	Meckel syndrome, type 1 +1 more	GUncertain significance
Select item 889020	NM_017777.4(MKS1):c.498G>T (p.Arg166=)	MKS1	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 13 +3 more	GConflicting classifications of pathogenicity
Select item 888966	NM_017777.4(MKS1):c.1273+4A>G	MKS1	Single nucleotide variant (intron variant)	Meckel syndrome, type 1 +1 more	GUncertain significance
Select item 888965	NM_017777.4(MKS1):c.1273+12T>A	MKS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 13 +3 more	GConflicting classifications of pathogenicity
Select item 888910	NM_017777.4(MKS1):c.*134C>T	MKS1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 863111	NM_017777.4(MKS1):c.858+6C>T	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 862934	NM_017777.4(MKS1):c.854A>G (p.Lys285Arg)	MKS1 (K285R +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 853823	NM_017777.4(MKS1):c.322C>T (p.Arg108Cys)	MKS1 (R108C)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 28 +6 more	GConflicting classifications of pathogenicity
Select item 852994	NM_017777.4(MKS1):c.1090G>C (p.Ala364Pro)	MKS1 (A364P +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 851430	NM_017777.4(MKS1):c.811C>G (p.His271Asp)	MKS1 (H271D +1 more)	Single nucleotide variant (missense variant)	MKS1-related condition +3 more	GUncertain significance
Select item 850615	NM_017777.4(MKS1):c.1657C>T (p.Pro553Ser)	MKS1 (P553S +2 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 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 836218	NM_017777.4(MKS1):c.1538T>C (p.Leu513Ser)	MKS1 (W441R +2 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 701344	NM_017777.4(MKS1):c.70T>C (p.Leu24=)	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
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 700552	NM_017777.4(MKS1):c.1233T>C (p.Arg411=)	MKS1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 700059	NM_017777.4(MKS1):c.729G>A (p.Thr243=)	MKS1	Single nucleotide variant (synonymous variant)	Meckel syndrome, type 1 +4 more	GConflicting classifications of pathogenicity
Select item 698586	NM_017777.4(MKS1):c.1209G>A (p.Ser403=)	MKS1	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +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 condition +3 more	GLikely benign
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 645921	NM_017777.4(MKS1):c.1232G>A (p.Arg411His)	MKS1 (R208H +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 631779	NM_017777.4(MKS1):c.370C>T (p.Arg124Ter)	MKS1 (R124*)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +5 more	GConflicting classifications of pathogenicity
Select item 597924	NM_017777.4(MKS1):c.813C>A (p.His271Gln)	MKS1 (H271Q +1 more)	Single nucleotide variant (missense variant)	MKS1-related condition +6 more	GUncertain significance
Select item 596972	NM_017777.4(MKS1):c.1408-3C>T	MKS1	Single nucleotide variant (intron variant)	MKS1-related condition +3 more	GConflicting classifications of pathogenicity

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