ClinVar for MedGen (Select 811346) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3582370	NM_017777.4(MKS1):c.44A>G (p.Tyr15Cys)	LOC130061271, MKS1 (Y15C)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 3582369	NM_017777.4(MKS1):c.155T>C (p.Ile52Thr)	MKS1 (I52T)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 3582368	NM_017777.4(MKS1):c.190+5G>A	MKS1	Single nucleotide variant (intron variant)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 3582367	NM_017777.4(MKS1):c.191-1G>T	MKS1	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 3582366	NM_017777.4(MKS1):c.235G>A (p.Gly79Arg)	MKS1 (G79R)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 3582365	NM_017777.4(MKS1):c.261+1G>T	MKS1	Single nucleotide variant (splice donor variant)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 3582363	NM_017777.4(MKS1):c.261+4A>G	MKS1	Single nucleotide variant (intron variant)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 3582362	NM_017777.4(MKS1):c.331A>G (p.Ile111Val)	MKS1 (I111V)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 3582361	NM_017777.4(MKS1):c.401A>G (p.Tyr134Cys)	MKS1 (Y134C)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 28 +4 more	GUncertain significance
Select item 3582360	NM_017777.4(MKS1):c.403A>G (p.Thr135Ala)	MKS1 (T135A)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 3582359	NM_017777.4(MKS1):c.448G>A (p.Glu150Lys)	MKS1 (E150K)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 3582357	NM_017777.4(MKS1):c.499C>G (p.Gln167Glu)	MKS1 (Q167E)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 3582356	NM_017777.4(MKS1):c.539G>T (p.Arg180Leu)	MKS1 (R180L)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 3582354	NM_017777.4(MKS1):c.842G>A (p.Arg281Gln)	MKS1 (R78Q +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 3582353	NM_017777.4(MKS1):c.895G>T (p.Val299Leu)	MKS1 (V299L +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 3582351	NM_017777.4(MKS1):c.983A>C (p.Asp328Ala)	MKS1 (D125A +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 3582350	NM_017777.4(MKS1):c.1024+5G>C	MKS1	Single nucleotide variant (intron variant)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 3582349	NM_017777.4(MKS1):c.1084T>A (p.Ser362Thr)	MKS1 (S159T +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 3582347	NM_017777.4(MKS1):c.1243dup (p.Tyr415fs)	MKS1 (Y212fs +1 more)	Duplication (frameshift variant)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 3582345	NM_017777.4(MKS1):c.1318G>A (p.Gly440Ser)	MKS1 (G440S +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 3582344	NM_017777.4(MKS1):c.1328C>T (p.Ala443Val)	MKS1 (A443V +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 3582343	NM_017777.4(MKS1):c.1408-2del	MKS1	Deletion (splice acceptor variant +1 more)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 3582340	NM_017777.4(MKS1):c.1634G>A (p.Ser545Asn)	MKS1 (S342N +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 3396489	NM_017777.4(MKS1):c.727A>T (p.Thr243Ser)	MKS1 (T243S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 3365536	NM_017777.4(MKS1):c.1095+3A>G	MKS1	Single nucleotide variant (intron variant)	Meckel syndrome, type 1 +3 more	GUncertain significance
Select item 3356351	NM_017777.4(MKS1):c.1182G>T (p.Trp394Cys)	MKS1 (W191C +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 1 +2 more	GUncertain significance
Select item 3350954	NM_017777.4(MKS1):c.5C>T (p.Ala2Val)	LOC130061271, MKS1 (A2V)	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel syndrome, type 1 +2 more	GUncertain significance
Select item 3344074	NM_017777.4(MKS1):c.758C>T (p.Thr253Met)	MKS1 (T253M +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 1 +2 more	GUncertain significance
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 2950126	NM_017777.4(MKS1):c.1166-11C>T	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2629007	NM_017777.4(MKS1):c.955G>T (p.Val319Phe)	MKS1 (V116F +1 more)	Single nucleotide variant (missense variant)	MKS1-related disorder +3 more	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)	Meckel syndrome, type 1 +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 2580573	NM_017777.4(MKS1):c.727A>G (p.Thr243Ala)	MKS1 (T243A +1 more)	Single nucleotide variant (missense variant)	not provided +3 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)	Joubert syndrome 28 +3 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 2282929	NM_017777.4(MKS1):c.1553G>A (p.Gly518Glu)	MKS1 (G446S +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 28 +3 more	GUncertain significance
Select item 2201928	NM_017777.4(MKS1):c.892C>T (p.Leu298Phe)	MKS1 (L95F +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GUncertain significance
Select item 2194212	NM_017777.4(MKS1):c.640A>G (p.Lys214Glu)	MKS1 (K214E +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GUncertain significance
Select item 2162174	NM_017777.4(MKS1):c.859-2A>C	MKS1	Single nucleotide variant (splice acceptor variant)	Meckel-Gruber syndrome +4 more	GLikely pathogenic
Select item 2160287	NM_017777.4(MKS1):c.1408-14A>G	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +4 more	GPathogenic/Likely pathogenic
Select item 2150162	NM_017777.4(MKS1):c.1612C>T (p.Arg538Cys)	MKS1 (P510L +2 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +5 more	GUncertain significance
Select item 2119980	NM_017777.4(MKS1):c.449A>T (p.Glu150Val)	MKS1 (E150V)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 1 +2 more	GUncertain significance
Select item 2071903	NM_017777.4(MKS1):c.1074C>A (p.Cys358Ter)	MKS1 (C358* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 28 +4 more	GPathogenic/Likely pathogenic
Select item 2058170	NM_017777.4(MKS1):c.1231C>T (p.Arg411Cys)	MKS1 (R411C +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 1 +4 more	GUncertain significance
Select item 2051785	NM_017777.4(MKS1):c.490C>T (p.Arg164Cys)	MKS1 (R164C)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 1 +4 more	GUncertain significance
Select item 1919612	NM_017777.4(MKS1):c.1423C>T (p.Arg475Cys)	MKS1 (R272C +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +4 more	GUncertain significance
Select item 1906615	NM_017777.4(MKS1):c.935G>A (p.Arg312Gln)	MKS1 (R109Q +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 1 +4 more	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)	Bardet-Biedl syndrome 13 +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 1470972	NM_017777.4(MKS1):c.1219T>C (p.Trp407Arg)	MKS1 (W204R +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 1 +4 more	GUncertain significance
Select item 1456980	NM_017777.4(MKS1):c.191-1G>A	MKS1	Single nucleotide variant (splice acceptor variant)	Meckel syndrome, type 1 +4 more	GPathogenic/Likely pathogenic
Select item 1419555	NM_017777.4(MKS1):c.957C>T (p.Val319=)	MKS1	Single nucleotide variant (synonymous variant)	Meckel syndrome, type 1 +4 more	GUncertain significance
Select item 1411953	NM_017777.4(MKS1):c.1466G>A (p.Arg489His)	MKS1 (R286H +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 1 +5 more	GUncertain significance
Select item 1406919	NM_017777.4(MKS1):c.47G>A (p.Arg16His)	LOC130061271, MKS1 (R16H)	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel syndrome, type 1 +4 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 syndrome, type 1 +5 more	GUncertain significance
Select item 1387955	NM_017777.4(MKS1):c.1071del (p.Cys358fs)	MKS1 (C155fs +1 more)	Deletion (frameshift variant)	Bardet-Biedl syndrome 13 +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)	Bardet-Biedl syndrome 13 +4 more	GPathogenic/Likely pathogenic
Select item 1376687	NM_017777.4(MKS1):c.1095G>C (p.Met365Ile)	MKS1 (M162I +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 1 +4 more	GUncertain significance
Select item 1348883	NM_017777.4(MKS1):c.524G>T (p.Gly175Val)	MKS1 (G175V)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 28 +4 more	GUncertain significance
Select item 1345285	NM_017777.4(MKS1):c.1460C>T (p.Thr487Ile)	MKS1 (T487I +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 28 +4 more	GUncertain significance
Select item 1312436	NM_017777.4(MKS1):c.916-5C>G	MKS1	Single nucleotide variant (intron variant)	Joubert syndrome 28 +3 more	GUncertain significance
Select item 1285105	NM_017777.4(MKS1):c.1435C>T (p.Arg479Cys)	MKS1 (R276C +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 13 +4 more	GUncertain significance
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)	Familial aplasia of the vermis +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 1073914	NM_017777.4(MKS1):c.1031C>G (p.Ser344Ter)	MKS1 (S141* +1 more)	Single nucleotide variant (nonsense)	Meckel-Gruber syndrome +5 more	GPathogenic/Likely pathogenic
Select item 1066722	NM_017777.4(MKS1):c.959-5C>A	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +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)	Meckel-Gruber syndrome +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)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1054923	NM_017777.4(MKS1):c.1505C>T (p.Ser502Leu)	MKS1 (R430* +2 more)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +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)	Joubert syndrome 28 +4 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)	Bardet-Biedl syndrome 13 +4 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 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 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 +4 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)	Familial aplasia of the vermis +4 more	GUncertain significance
Select item 1018871	NM_017777.4(MKS1):c.638A>G (p.Tyr213Cys)	MKS1 (Y10C +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +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)	Meckel-Gruber syndrome +1 more	GUncertain significance

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