Related gene-specific medical variations for Gene (Select 54903) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3355671	NM_017777.4(MKS1):c.-23A>G	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant)	MKS1-related disorder	GLikely benign
Select item 3355616	NM_017777.4(MKS1):c.12C>G (p.Thr4=)	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	MKS1-related disorder	GLikely benign
Select item 3354372	NM_017777.4(MKS1):c.12C>A (p.Thr4=)	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	MKS1-related disorder	GLikely benign
Select item 3350954	NM_017777.4(MKS1):c.5C>T (p.Ala2Val)	LOC130061271, MKS1 (A2V)	Single nucleotide variant (5 prime UTR variant +1 more)	MKS1-related disorder	GUncertain significance
Select item 3346826	NM_017777.4(MKS1):c.57C>T (p.Asp19=)	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	MKS1-related disorder	GLikely benign
Select item 3345564	NM_017777.4(MKS1):c.80+13C>T	LOC130061271, MKS1	Single nucleotide variant (intron variant)	MKS1-related disorder	GLikely benign
Select item 3344215	NM_017777.4(MKS1):c.48C>T (p.Arg16=)	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	MKS1-related disorder	GUncertain significance
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 3242975	NC_000017.10:g.(?_56289719)_(56294117_?)del	MKS1	Deletion	Familial aplasia of the vermis +1 more	GPathogenic
Select item 3242974	NC_000017.10:g.(?_56293914)_(56294114_?)del	MKS1	Deletion	Familial aplasia of the vermis +1 more	GPathogenic
Select item 3241938	NM_017777.4(MKS1):c.91C>T (p.Gln31Ter)	MKS1 (Q31*)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 13	GLikely pathogenic
Select item 3241937	NM_017777.4(MKS1):c.1066_1067del (p.Gln356fs)	MKS1 (Q153fs +1 more)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 13	GLikely pathogenic
Select item 3241936	NM_017777.4(MKS1):c.18G>A (p.Trp6Ter)	LOC130061271, MKS1 (W6*)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 13	GLikely pathogenic
Select item 3241935	NM_017777.4(MKS1):c.1029G>A (p.Trp343Ter)	MKS1 (W140* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 13	GLikely pathogenic
Select item 2949048	NM_017777.4(MKS1):c.80+11del	LOC130061271, MKS1	Deletion (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2945819	NM_017777.4(MKS1):c.80+16C>T	LOC130061271, MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2944723	NM_017777.4(MKS1):c.2T>A (p.Met1Lys)	LOC130061271, MKS1 (M1K)	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 2944248	NM_017777.4(MKS1):c.80+17A>G	LOC130061271, MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2941109	NM_017777.4(MKS1):c.80+10C>T	LOC130061271, MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 2937713	NM_017777.4(MKS1):c.80+11C>G	LOC130061271, MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2937681	NM_017777.4(MKS1):c.80+7G>T	LOC130061271, MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2936685	NM_017777.4(MKS1):c.60C>A (p.Pro20=)	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2932198	NM_017777.4(MKS1):c.45T>C (p.Tyr15=)	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2924446	NM_017777.4(MKS1):c.2T>C (p.Met1Thr)	LOC130061271, MKS1 (M1T)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial aplasia of the vermis +1 more	GPathogenic
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 2636407	NM_017777.4(MKS1):c.76C>T (p.Leu26Phe)	LOC130061271, MKS1 (L26F)	Single nucleotide variant (5 prime UTR variant +1 more)	MKS1-related disorder	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 2500156	NM_017777.4(MKS1):c.466G>A (p.Val156Ile)	MKS1 (V156I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2474046	NM_017777.4(MKS1):c.65G>A (p.Arg22His)	LOC130061271, MKS1 (R22H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2428117	NM_017777.4(MKS1):c.39A>G (p.Ala13=)	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2197268	NM_017777.4(MKS1):c.20G>A (p.Ser7Asn)	LOC130061271, MKS1 (S7N)	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2165681	NM_017777.4(MKS1):c.80+6C>T	LOC130061271, MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2159607	NM_017777.4(MKS1):c.53G>A (p.Arg18Gln)	LOC130061271, MKS1 (R18Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2152444	NM_017777.4(MKS1):c.60C>T (p.Pro20=)	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2142535	NM_017777.4(MKS1):c.68A>G (p.Asn23Ser)	LOC130061271, MKS1 (N23S)	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2115872	NM_017777.4(MKS1):c.17G>A (p.Trp6Ter)	LOC130061271, MKS1 (W6*)	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 2112181	NM_017777.4(MKS1):c.68A>C (p.Asn23Thr)	LOC130061271, MKS1 (N23T)	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2096531	NM_017777.4(MKS1):c.50C>T (p.Ser17Phe)	LOC130061271, MKS1 (S17F)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2095716	NM_017777.4(MKS1):c.69C>T (p.Asn23=)	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2079525	NM_017777.4(MKS1):c.62T>G (p.Val21Gly)	LOC130061271, MKS1 (V21G)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1995869	NM_017777.4(MKS1):c.80+4G>A	LOC130061271, MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1982572	NM_017777.4(MKS1):c.31G>T (p.Gly11Trp)	LOC130061271, MKS1 (G11W)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1980535	NM_017777.4(MKS1):c.23C>G (p.Thr8Ser)	LOC130061271, MKS1 (T8S)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1610113	NM_017777.4(MKS1):c.80+18G>A	LOC130061271, MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1406919	NM_017777.4(MKS1):c.47G>A (p.Arg16His)	LOC130061271, MKS1 (R16H)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1364065	NM_017777.4(MKS1):c.31G>C (p.Gly11Arg)	LOC130061271, MKS1 (G11R)	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1356039	NM_017777.4(MKS1):c.46C>T (p.Arg16Cys)	LOC130061271, MKS1 (R16C)	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1323276	NM_017777.4(MKS1):c.1277C>G (p.Ser426Ter)	MKS1 (S223* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1199830	NM_017777.4(MKS1):c.80+64G>A	LOC130061271, MKS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1150148	NM_017777.4(MKS1):c.51C>T (p.Ser17=)	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1131725	NM_017777.4(MKS1):c.30C>T (p.Thr10=)	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1104820	NM_017777.4(MKS1):c.30C>A (p.Thr10=)	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1070776	NM_017777.4(MKS1):c.34G>T (p.Glu12Ter)	LOC130061271, MKS1 (E12*)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +1 more	GPathogenic
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 955851	NM_017777.4(MKS1):c.79C>T (p.Arg27Ter)	LOC130061271, MKS1 (R27*)	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 937470	NM_017777.4(MKS1):c.10A>G (p.Thr4Ala)	LOC130061271, MKS1 (T4A)	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 892462	NM_017777.4(MKS1):c.10A>T (p.Thr4Ser)	LOC130061271, MKS1 (T4S)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 13 +3 more	GUncertain significance
Select item 889082	NM_017777.4(MKS1):c.-20C>G	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 13 +2 more	GUncertain significance
Select item 889081	NM_017777.4(MKS1):c.-15C>G	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 13 +2 more	GUncertain significance
Select item 862585	NM_017777.4(MKS1):c.38C>A (p.Ala13Glu)	LOC130061271, MKS1 (A13E)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 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)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 636043	NM_006343.2:c.(?_-1)_(1144+1_1145-1)del	MERTK, MKS1	Deletion	Retinitis pigmentosa	GPathogenic
Select item 596728	NM_017777.4(MKS1):c.32G>C (p.Gly11Ala)	LOC130061271, MKS1 (G11A)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 595787	NM_017777.4(MKS1):c.36G>T (p.Glu12Asp)	LOC130061271, MKS1 (E12D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 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 516267	NM_017777.4(MKS1):c.-20C>T	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	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 461764	NM_017777.4(MKS1):c.64C>A (p.Arg22Ser)	LOC130061271, MKS1 (R22S)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 445603	NM_017777.4(MKS1):c.272A>C (p.Asp91Ala)	MKS1 (D91A)	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
Select item 324170	NM_017777.4(MKS1):c.80+14C>G	LOC130061271, MKS1	Single nucleotide variant (intron variant)	Meckel syndrome, type 1 +4 more	GConflicting classifications of pathogenicity
Select item 288709	NM_017777.4(MKS1):c.12C>T (p.Thr4=)	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GLikely benign
Select item 287924	NM_017777.4(MKS1):c.30C>G (p.Thr10=)	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 286568	NM_017777.4(MKS1):c.52C>A (p.Arg18=)	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 260886	NM_017777.4(MKS1):c.644+14C>T	MKS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 260881	NM_017777.4(MKS1):c.1273+39C>T	MKS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 260877	NM_017777.4(MKS1):c.-18C>G	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 13 +2 more	GBenign/Likely benign
Select item 217681	NM_017777.4(MKS1):c.1261C>T (p.Pro421Ser)	MKS1 (P421S +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis	GPathogenic
Select item 217680	NM_017777.4(MKS1):c.767_768insC (p.Glu256fs)	MKS1 (E256fs +1 more)	Insertion (frameshift variant)	Familial aplasia of the vermis	GPathogenic
Select item 217679	NM_017777.4(MKS1):c.950G>A (p.Gly317Glu)	MKS1 (G317E +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis	GPathogenic
Select item 217676	NM_017777.4(MKS1):c.381del (p.Tyr128fs)	MKS1 (Y128fs)	Deletion (5 prime UTR variant +1 more)	Familial aplasia of the vermis	GPathogenic
Select item 217675	NM_017777.4(MKS1):c.55G>T (p.Asp19Tyr)	LOC130061271, MKS1 (D19Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 217674	NM_017777.4(MKS1):c.262-179_262-37del	MKS1	Deletion (intron variant)	Familial aplasia of the vermis	GPathogenic
Select item 217673	NM_017777.4(MKS1):c.1528dup (p.Arg510fs)	MKS1 (R307fs +3 more)	Duplication (frameshift variant)	Familial aplasia of the vermis	GPathogenic
Select item 56625	NM_017777.4(MKS1):c.51_55dup (p.Asp19fs)	LOC130061271, MKS1 (D19fs)	Duplication (5 prime UTR variant +1 more)	Familial aplasia of the vermis +4 more	GPathogenic/Likely pathogenic
Select item 56622	NM_017777.4(MKS1):c.424C>T (p.Gln142Ter)	MKS1 (Q142*)	Single nucleotide variant (nonsense +1 more)	Meckel syndrome, type 1	GLikely pathogenic
Select item 56620	NM_017777.4(MKS1):c.392_393del (p.Asp130_Ser131insTer)	MKS1	Microsatellite (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 13	GPathogenic
Select item 56618	NM_017777.4(MKS1):c.1490G>A (p.Arg497Lys)	MKS1 (R497K +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 1	GLikely pathogenic
Select item 56615	NM_017777.4(MKS1):c.1407+2del	MKS1	Deletion (splice donor variant +1 more)	Meckel syndrome, type 1	GLikely pathogenic
Select item 56614	NM_017777.4(MKS1):c.1048C>T (p.Gln350Ter)	MKS1 (Q350* +1 more)	Single nucleotide variant (nonsense)	Meckel syndrome, type 1	GLikely pathogenic
Select item 56613	NM_017777.4(MKS1):c.1048C>G (p.Gln350Glu)	MKS1 (Q350E +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 1	GLikely pathogenic

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