ClinVar for MedGen (Select 393032) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2676558	NM_017777.4(MKS1):c.1501G>T (p.Glu501Ter)	MKS1 (E298* +3 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 13	GLikely pathogenic
Select item 2676557	NM_017777.4(MKS1):c.259C>T (p.Gln87Ter)	MKS1 (Q87*)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 13	GLikely pathogenic
Select item 2676556	NM_017777.4(MKS1):c.766dup (p.Glu256fs)	MKS1 (E256fs +1 more)	Duplication (frameshift variant)	Bardet-Biedl syndrome 13	GLikely pathogenic
Select item 2676555	NM_017777.4(MKS1):c.171del (p.Phe57fs)	MKS1 (F57fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 13	GLikely pathogenic
Select item 2676554	NM_017777.4(MKS1):c.1165+2T>C	MKS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 13	GLikely pathogenic
Select item 2676553	NM_017777.4(MKS1):c.1203_1209delinsTCTCT (p.Leu404fs)	MKS1 (L201fs +1 more)	Indel (frameshift variant)	Bardet-Biedl syndrome 13	GLikely pathogenic
Select item 2676551	NM_017777.4(MKS1):c.1447_1490+22del	MKS1	Deletion (splice donor variant +1 more)	Bardet-Biedl syndrome 13	GLikely pathogenic
Select item 2676550	NM_017777.4(MKS1):c.766del (p.Glu256fs)	MKS1 (E256fs +1 more)	Deletion (frameshift variant)	Bardet-Biedl syndrome 13	GLikely pathogenic
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 2108139	NM_017777.4(MKS1):c.190+1G>A	MKS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 13 +2 more	GLikely pathogenic
Select item 2071903	NM_017777.4(MKS1):c.1074C>A (p.Cys358Ter)	MKS1 (C358* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 13 +2 more	GPathogenic/Likely pathogenic
Select item 2044174	NM_017777.4(MKS1):c.119_126dup (p.Pro43fs)	MKS1 (P43fs)	Duplication (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 13 +2 more	GPathogenic/Likely pathogenic
Select item 2026409	NM_017777.4(MKS1):c.81_82del	MKS1	Microsatellite	Meckel-Gruber syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2009651	NM_017777.4(MKS1):c.1045C>T (p.Gln349Ter)	MKS1 (Q349* +1 more)	Single nucleotide variant (nonsense)	Meckel-Gruber syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1918431	NM_017777.4(MKS1):c.1274-2A>C	MKS1	Single nucleotide variant (intron variant +1 more)	Bardet-Biedl syndrome 13 +2 more	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 1512327	NM_017777.4(MKS1):c.1490+1G>A	MKS1	Single nucleotide variant (splice donor variant +1 more)	Familial aplasia of the vermis +2 more	GLikely pathogenic
Select item 1470119	NM_017777.4(MKS1):c.516-2A>G	MKS1	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 13 +2 more	GLikely pathogenic
Select item 1456980	NM_017777.4(MKS1):c.191-1G>A	MKS1	Single nucleotide variant (splice acceptor variant)	Meckel-Gruber syndrome +2 more	GPathogenic
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 1363964	NM_017777.4(MKS1):c.805dup (p.Ser269fs)	MKS1 (S269fs +1 more)	Duplication (frameshift variant)	Familial aplasia of the vermis +2 more	GPathogenic/Likely pathogenic
Select item 1073914	NM_017777.4(MKS1):c.1031C>G (p.Ser344Ter)	MKS1 (S141* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +3 more	GPathogenic/Likely pathogenic
Select item 1066586	NM_017777.4(MKS1):c.1095+1G>A	MKS1	Single nucleotide variant (splice donor variant)	Familial aplasia of the vermis +2 more	GLikely pathogenic
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 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 1027784	NM_001165927.1(MKS1):c.32G>C (p.Arg11Pro)	MKS1	Single nucleotide variant	Bardet-Biedl syndrome 13	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 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 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)	Bardet-Biedl syndrome 13 +2 more	GConflicting classifications of pathogenicity
Select item 853823	NM_017777.4(MKS1):c.322C>T (p.Arg108Cys)	MKS1 (R108C)	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel syndrome, type 1 +6 more	GConflicting classifications of pathogenicity
Select item 838736	NM_017777.4(MKS1):c.458C>A (p.Ser153Ter)	MKS1 (S153*)	Single nucleotide variant (nonsense +1 more)	Familial aplasia of the vermis +2 more	GPathogenic/Likely pathogenic
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 683187	NM_017777.4(MKS1):c.1024+128C>T	MKS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 674992	NM_017777.4(MKS1):c.261+67A>G	MKS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 13 +2 more	GBenign
Select item 674917	NM_017777.4(MKS1):c.750-105T>C	MKS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 13 +2 more	GBenign
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 595533	NM_017777.4(MKS1):c.1325T>G (p.Val442Gly)	MKS1 (V442G +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +5 more	GUncertain significance
Select item 594938	NM_017777.4(MKS1):c.1465C>T (p.Arg489Cys)	MKS1 (R489C +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 13 +3 more	GUncertain significance
Select item 594241	NM_017777.4(MKS1):c.728C>T (p.Thr243Met)	MKS1 (T243M +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +5 more	GUncertain significance
Select item 558654	NM_017777.4(MKS1):c.1A>G (p.Met1Val)	LOC130061271, MKS1 (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 558281	NM_017777.4(MKS1):c.1268C>T (p.Thr423Ile)	MKS1 (T423I +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 557821	NM_017777.3(MKS1):c.-34_-12del	LOC130061271, MKS1	Deletion (genic upstream transcript variant)	Bardet-Biedl syndrome 13 +2 more	GUncertain significance
Select item 557671	NM_017777.4(MKS1):c.1434_1462del (p.Arg479fs)	MKS1 (R276fs +1 more)	Deletion (frameshift variant +1 more)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 556907	NM_017777.4(MKS1):c.1166-2A>G	MKS1	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 13 +4 more	GLikely pathogenic
Select item 556614	NM_017777.4(MKS1):c.1408-2A>G	MKS1	Single nucleotide variant (splice acceptor variant +1 more)	Bardet-Biedl syndrome 13 +2 more	GLikely pathogenic
Select item 556312	NM_017777.4(MKS1):c.858+1G>A	MKS1	Single nucleotide variant (splice donor variant)	Joubert syndrome 28 +4 more	GConflicting classifications of pathogenicity
Select item 556256	NM_017777.4(MKS1):c.1288_1314del (p.Thr430_Glu438del)	MKS1	Deletion (inframe_deletion +1 more)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 555649	NM_017777.4(MKS1):c.823GAG[5] (p.Glu278dup)	MKS1	Microsatellite (inframe_insertion)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 555641	NM_017777.4(MKS1):c.1497del (p.Phe499fs)	MKS1 (F296fs +3 more)	Deletion (frameshift variant)	Bardet-Biedl syndrome 13 +5 more	GConflicting classifications of pathogenicity
Select item 555057	NM_017777.4(MKS1):c.1407+3_1407+5delinsAAT	MKS1	Indel (intron variant)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 554941	NM_017777.4(MKS1):c.1614del (p.Met539fs)	MKS1 (M336fs +2 more)	Deletion (frameshift variant +1 more)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 554581	NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)	MKS1 (E277* +1 more)	Single nucleotide variant (nonsense)	Meckel syndrome, type 1 +4 more	GPathogenic/Likely pathogenic
Select item 554287	NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter)	MKS1 (R534* +2 more)	Single nucleotide variant (nonsense +2 more)	Meckel syndrome, type 1 +4 more	GConflicting classifications of pathogenicity
Select item 553842	NM_017777.4(MKS1):c.515+2T>G	MKS1	Single nucleotide variant (intron variant +1 more)	Meckel syndrome, type 1 +2 more	GLikely pathogenic
Select item 552912	NM_017777.4(MKS1):c.1331_1345del (p.Glu444_Phe449delinsVal)	MKS1	Deletion (inframe_indel +1 more)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 551955	NM_017777.4(MKS1):c.1531_1534del (p.Ser511fs)	MKS1 (S511fs +3 more)	Deletion (frameshift variant)	not specified +5 more	GUncertain significance
Select item 551726	NM_017777.4(MKS1):c.1076CCA[1] (p.Thr360del)	MKS1 (T360del +1 more)	Microsatellite (inframe_deletion)	Joubert syndrome 28 +2 more	GUncertain significance
Select item 551006	NM_017777.4(MKS1):c.1621G>T (p.Glu541Ter)	MKS1 (E541* +2 more)	Single nucleotide variant (nonsense +2 more)	Meckel syndrome, type 1 +4 more	GUncertain significance
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 546082	NM_017777.4(MKS1):c.763G>C (p.Gly255Arg)	MKS1 (G255R +1 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 13 +6 more	GUncertain significance

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