7121[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 891097	NM_017777.4(MKS1):c.*603T>G	MKS1	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 13 +2 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 892306	NM_017777.4(MKS1):c.*472C>G	MKS1	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 13 +2 more	GBenign/Likely benign
Select item 324153	NM_017777.4(MKS1):c.*469C>T	MKS1	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 1 +1 more	GUncertain significance
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 324154	NM_017777.4(MKS1):c.*414C>T	MKS1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 324155	NM_017777.4(MKS1):c.*381A>G	MKS1	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 13 +1 more	GUncertain significance
Select item 1277626	NM_017777.4(MKS1):c.*351del	MKS1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 324156	NM_017777.4(MKS1):c.*322G>T	MKS1	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 13 +2 more	GConflicting classifications of pathogenicity
Select item 888910	NM_017777.4(MKS1):c.*134C>T	MKS1	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 3358438	NM_017777.4(MKS1):c.*97G>A	MKS1	Single nucleotide variant (3 prime UTR variant)	MKS1-related disorder	GLikely benign
Select item 3044387	NM_017777.4(MKS1):c.*96C>T	MKS1	Single nucleotide variant (3 prime UTR variant)	MKS1-related disorder	GLikely benign
Select item 3054692	NM_017777.4(MKS1):c.*76G>A	MKS1 (R558H)	Single nucleotide variant (3 prime UTR variant +1 more)	MKS1-related disorder	GUncertain significance
Select item 324157	NM_017777.4(MKS1):c.*75C>T	MKS1 (R558C)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 13 +2 more	GBenign
Select item 2632071	NM_017777.4(MKS1):c.*70C>A	MKS1 (P556H)	Single nucleotide variant (3 prime UTR variant +1 more)	MKS1-related disorder	GUncertain significance
Select item 3347589	NM_017777.4(MKS1):c.*63C>G	MKS1 (L554V)	Single nucleotide variant (3 prime UTR variant +1 more)	MKS1-related disorder	GUncertain significance
Select item 3037883	NM_017777.4(MKS1):c.*58G>C	MKS1 (S552T)	Single nucleotide variant (3 prime UTR variant +1 more)	MKS1-related disorder	GLikely benign
Select item 890608	NM_017777.4(MKS1):c.*49C>A	MKS1 (S549Y)	Single nucleotide variant (3 prime UTR variant +1 more)	Meckel syndrome, type 1 +1 more	GUncertain significance
Select item 2631936	NM_017777.4(MKS1):c.*43G>A	MKS1 (G547E)	Single nucleotide variant (3 prime UTR variant +1 more)	MKS1-related disorder	GUncertain significance
Select item 1187069	NM_017777.4(MKS1):c.*38del	MKS1 (R545fs)	Deletion (3 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 2629384	NM_017777.4(MKS1):c.*26C>A	MKS1 (C541*)	Single nucleotide variant (3 prime UTR variant +1 more)	MKS1-related disorder	GUncertain significance
Select item 1501927	NM_017777.4(MKS1):c.1678T>C (p.Ter560Gln)	MKS1 (L532P)	Single nucleotide variant (stop lost +2 more)	not specified +2 more	GUncertain significance
Select item 1654920	NM_017777.4(MKS1):c.1677C>T (p.Ser559=)	MKS1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1131427	NM_017777.4(MKS1):c.1674C>T (p.Val558=)	MKS1 (L531F)	Single nucleotide variant (synonymous variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 971588	NM_017777.4(MKS1):c.1671G>A (p.Leu557=)	MKS1 (G530S)	Single nucleotide variant (synonymous variant +2 more)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 500044	NM_017777.4(MKS1):c.1671G>T (p.Leu557=)	MKS1 (G530C)	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 697179	NM_017777.4(MKS1):c.1668C>T (p.Thr556=)	MKS1 (P529S)	Single nucleotide variant (synonymous variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 3295020	NM_017777.4(MKS1):c.1661C>G (p.Ser554Cys)	MKS1 (S351C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 501079	NM_017777.4(MKS1):c.1653G>C (p.Val551=)	MKS1 (E524Q)	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1113411	NM_017777.4(MKS1):c.1641G>A (p.Pro547=)	MKS1 (A520T)	Single nucleotide variant (synonymous variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
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 +6 more	GUncertain significance
Select item 1480979	NM_017777.4(MKS1):c.1522_1638del117 (p.Arg508_Leu546del)	MKS1	Deletion (splice acceptor variant +3 more)	Meckel-Gruber syndrome +1 more	GLikely pathogenic
Select item 1986456	NM_017777.4(MKS1):c.1635C>G (p.Ser545Arg)	MKS1 (S545R +2 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1968833	NM_017777.4(MKS1):c.1635C>A (p.Ser545Arg)	MKS1 (S342R +2 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2127746	NM_017777.4(MKS1):c.1630G>A (p.Glu544Lys)	MKS1 (E544K +2 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1138880	NM_017777.4(MKS1):c.1629G>A (p.Arg543=)	MKS1 (G516R)	Single nucleotide variant (synonymous variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1309103	NM_017777.4(MKS1):c.1628G>A (p.Arg543Gln)	MKS1 (R340Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 551006	NM_017777.4(MKS1):c.1621G>T (p.Glu541Ter)	MKS1 (E541* +2 more)	Single nucleotide variant (nonsense +2 more)	Bardet-Biedl syndrome 13 +4 more	GUncertain significance
Select item 1917987	NM_017777.4(MKS1):c.1619del (p.Gln540fs)	MKS1 (G513fs +2 more)	Deletion (frameshift variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2016770	NM_017777.4(MKS1):c.1617G>T (p.Met539Ile)	MKS1 (A512S +2 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 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 1899767	NM_017777.4(MKS1):c.1613G>C (p.Arg538Pro)	MKS1 (R335P +1 more)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +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)	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)	Inborn genetic diseases +6 more	GUncertain significance
Select item 2150162	NM_017777.4(MKS1):c.1612C>T (p.Arg538Cys)	MKS1 (P510L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +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)	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)	Meckel syndrome, type 1 +4 more	GConflicting classifications of pathogenicity
Select item 1642046	NM_017777.4(MKS1):c.1608G>A (p.Arg536=)	MKS1 (A509T)	Single nucleotide variant (synonymous variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 397617	NM_017777.4(MKS1):c.1607G>A (p.Arg536Gln)	MKS1 (R536Q +1 more)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +3 more	GUncertain significance
Select item 597354	NM_017777.4(MKS1):c.1606C>T (p.Arg536Trp)	MKS1 (R536W +2 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1602260	NM_017777.4(MKS1):c.1605C>T (p.Ala535=)	MKS1 (P508S)	Single nucleotide variant (synonymous variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 501078	NM_017777.4(MKS1):c.1605C>G (p.Ala535=)	MKS1 (P508A)	Single nucleotide variant (synonymous variant +2 more)	Meckel-Gruber syndrome +2 more	GConflicting classifications of pathogenicity
Select item 183012	NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)	MKS1 (R534Q +1 more)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +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 260883	NM_017777.4(MKS1):c.1600C>A (p.Arg534=)	MKS1 (S506*)	Single nucleotide variant (synonymous variant +2 more)	not specified +5 more	GLikely benign
Select item 1350596	NM_017777.4(MKS1):c.1598G>T (p.Arg533Leu)	MKS1 (R330L +1 more)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +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)	Meckel syndrome, type 1 +4 more	GUncertain significance
Select item 593886	NM_017777.4(MKS1):c.1597C>T (p.Arg533Cys)	MKS1 (R533C +2 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 1038597	NM_017777.4(MKS1):c.1592C>A (p.Ala531Asp)	MKS1 (A531D +1 more)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2937315	NM_017777.4(MKS1):c.1590G>A (p.Glu530=)	MKS1 (G503S)	Single nucleotide variant (synonymous variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 598531	NM_017777.4(MKS1):c.1590G>T (p.Glu530Asp)	MKS1 (E530D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1969640	NM_017777.4(MKS1):c.1589-2A>G	MKS1	Single nucleotide variant (splice acceptor variant)	Meckel-Gruber syndrome +1 more	GLikely pathogenic
Select item 217678	NM_017777.4(MKS1):c.1589-2A>T	MKS1	Single nucleotide variant (splice acceptor variant)	Familial aplasia of the vermis +1 more	GPathogenic/Likely pathogenic
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 1149126	NM_017777.4(MKS1):c.1589-7C>T	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1589711	NM_017777.4(MKS1):c.1589-10T>A	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2037609	NM_017777.4(MKS1):c.1589-11T>C	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1592271	NM_017777.4(MKS1):c.1589-12C>T	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2946994	NM_017777.4(MKS1):c.1589-15C>G	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2951132	NM_017777.4(MKS1):c.1589-19A>T	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2924474	NM_017777.4(MKS1):c.1589-19A>G	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1632277	NM_017777.4(MKS1):c.1588+20T>C	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2926906	NM_017777.4(MKS1):c.1588+16C>G	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2924509	NM_017777.4(MKS1):c.1588+16C>A	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2923182	NM_017777.4(MKS1):c.1588+15C>G	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 260882	NM_017777.4(MKS1):c.1588+12C>G	MKS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 13 +5 more	GLikely benign
Select item 2951308	NM_017777.4(MKS1):c.1588+10del	MKS1	Deletion (intron variant)	Familial aplasia of the vermis +1 more	GBenign
Select item 2931167	NM_017777.4(MKS1):c.1588+7C>T	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2113795	NM_017777.4(MKS1):c.1588+7C>A	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2148366	NM_017777.4(MKS1):c.1588+3A>G	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 254677	NM_017777.4(MKS1):c.1588+1G>T	MKS1	Single nucleotide variant (splice donor variant)	Joubert syndrome 28	GPathogenic
Select item 499834	NM_017777.4(MKS1):c.1582G>A (p.Val528Met)	MKS1 (V528M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593348	NM_017777.4(MKS1):c.1580A>G (p.Asn527Ser)	MKS1 (N527S +2 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 2933515	NM_017777.4(MKS1):c.1578C>T (p.His526=)	MKS1 (T454I +1 more)	Single nucleotide variant (synonymous variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2002903	NM_017777.4(MKS1):c.1575T>A (p.Ile525=)	MKS1 (S498T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2503800	NM_017777.4(MKS1):c.1572del (p.Ile525fs)	MKS1 (H497fs +3 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 597083	NM_017777.4(MKS1):c.1572C>T (p.Ser524=)	MKS1 (H497Y +1 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	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 1533003	NM_017777.4(MKS1):c.1560C>T (p.Ser520=)	MKS1 (A448V +1 more)	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 597338	NM_017777.4(MKS1):c.1557C>T (p.Phe519=)	MKS1 (Q492* +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2282929	NM_017777.4(MKS1):c.1553G>A (p.Gly518Glu)	MKS1 (G446S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Meckel-Gruber syndrome +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)	not provided +5 more	GUncertain significance
Select item 3349288	NM_017777.4(MKS1):c.1543C>G (p.Arg515Gly)	MKS1 (P487R +2 more)	Single nucleotide variant (missense variant +1 more)	MKS1-related disorder	GUncertain significance

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