ClinVar for MedGen (Select 893475) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3059574	NM_017777.4(MKS1):c.262-89T>C	MKS1	Single nucleotide variant (intron variant)	MKS1-related disorder	GLikely benign
Select item 3059459	NC_000017.11:g.58219481G>T	MKS1	Single nucleotide variant	MKS1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3059164	NM_017777.4(MKS1):c.262-90G>A	MKS1	Single nucleotide variant (intron variant)	MKS1-related disorder	GLikely benign
Select item 3058941	NM_017777.4(MKS1):c.262-151T>A	MKS1	Single nucleotide variant (intron 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 3045928	NM_017777.4(MKS1):c.1229A>G (p.Tyr410Cys)	MKS1 (Y207C +1 more)	Single nucleotide variant (missense variant)	MKS1-related disorder	GUncertain significance
Select item 3045715	NM_017777.4(MKS1):c.682C>T (p.Leu228=)	MKS1	Single nucleotide variant (synonymous variant)	MKS1-related disorder	GLikely benign
Select item 3045330	NM_017777.4(MKS1):c.262-42del	MKS1	Deletion (intron variant)	MKS1-related disorder	GLikely benign
Select item 3044418	NM_017777.4(MKS1):c.262-84C>T	MKS1	Single nucleotide variant (intron 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 3043711	NM_017777.4(MKS1):c.262-160T>A	MKS1	Single nucleotide variant (intron variant)	MKS1-related disorder	GLikely benign
Select item 3042431	NM_017777.4(MKS1):c.262-69_262-68dup	MKS1	Duplication (intron variant)	MKS1-related disorder	GLikely benign
Select item 3042199	NM_017777.4(MKS1):c.262-101_262-100del	MKS1	Deletion (intron variant)	MKS1-related disorder	GLikely benign
Select item 3040553	NM_017777.4(MKS1):c.262-62_262-40del	MKS1	Deletion (intron variant)	MKS1-related disorder	GLikely benign
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 3037796	NM_017777.4(MKS1):c.262-148C>T	MKS1	Single nucleotide variant (intron variant)	MKS1-related disorder	GLikely benign
Select item 3030604	NM_017777.4(MKS1):c.262-48A>T	MKS1	Single nucleotide variant (intron variant)	MKS1-related disorder	GLikely benign
Select item 3030215	NM_017777.4(MKS1):c.262-128G>A	MKS1	Single nucleotide variant (intron variant)	MKS1-related disorder	GLikely benign
Select item 3030065	NC_000017.11:g.58219470G>A	MKS1	Single nucleotide variant	MKS1-related disorder	GLikely benign
Select item 2935378	NM_017777.4(MKS1):c.1476T>C (p.Cys492=)	MKS1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 2637277	NM_017777.4(MKS1):c.1464C>G (p.Phe488Leu)	MKS1 (F285L +1 more)	Single nucleotide variant (missense variant +1 more)	MKS1-related disorder	GUncertain significance
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 2636295	NM_017777.4(MKS1):c.1224_1229del (p.Gln408_Tyr410delinsHis)	MKS1	Deletion (inframe_indel)	MKS1-related disorder	GUncertain significance
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 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 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 2629007	NM_017777.4(MKS1):c.955G>T (p.Val319Phe)	MKS1 (V116F +1 more)	Single nucleotide variant (missense variant)	MKS1-related disorder	GUncertain significance
Select item 2433753	NM_017777.4(MKS1):c.461T>C (p.Phe154Ser)	MKS1 (F154S)	Single nucleotide variant (missense variant +1 more)	MKS1-related disorder +1 more	GUncertain significance
Select item 2152851	NM_017777.4(MKS1):c.1138T>G (p.Phe380Val)	MKS1 (F177V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 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)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 2148366	NM_017777.4(MKS1):c.1588+3A>G	MKS1	Single nucleotide variant (intron variant)	MKS1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2068065	NM_017777.4(MKS1):c.1354G>A (p.Gly452Ser)	MKS1 (G452S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 2064905	NM_017777.4(MKS1):c.1095+10A>G	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 2058170	NM_017777.4(MKS1):c.1231C>T (p.Arg411Cys)	MKS1 (R411C +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1960765	NM_017777.4(MKS1):c.411G>A (p.Leu137=)	MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	MKS1-related disorder +2 more	GLikely benign
Select item 1919612	NM_017777.4(MKS1):c.1423C>T (p.Arg475Cys)	MKS1 (R272C +1 more)	Single nucleotide variant (missense variant +1 more)	MKS1-related disorder +2 more	GUncertain significance
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 1655661	NM_017777.4(MKS1):c.978G>A (p.Glu326=)	MKS1	Single nucleotide variant (synonymous variant)	MKS1-related disorder +2 more	GLikely benign
Select item 1651953	NM_017777.4(MKS1):c.1274-6G>T	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 1627152	NM_017777.4(MKS1):c.1274-5C>T	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 1598402	NM_017777.4(MKS1):c.585C>T (p.His195=)	MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 1587562	NM_017777.4(MKS1):c.628C>T (p.Leu210=)	MKS1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 1405843	NM_017777.4(MKS1):c.243G>A (p.Gln81=)	MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	MKS1-related disorder +2 more	GLikely benign
Select item 1312436	NM_017777.4(MKS1):c.916-5C>G	MKS1	Single nucleotide variant (intron variant)	MKS1-related disorder +1 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)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1153563	NM_017777.4(MKS1):c.114T>C (p.Phe38=)	MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 1149126	NM_017777.4(MKS1):c.1589-7C>T	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 1144062	NM_017777.4(MKS1):c.351G>C (p.Ser117=)	MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 1130426	NM_017777.4(MKS1):c.822G>A (p.Pro274=)	MKS1	Single nucleotide variant (synonymous variant)	MKS1-related disorder +2 more	GLikely benign
Select item 1126953	NM_017777.4(MKS1):c.1425C>A (p.Arg475=)	MKS1	Single nucleotide variant (synonymous variant +1 more)	MKS1-related disorder +2 more	GLikely benign
Select item 1124968	NM_017777.4(MKS1):c.858+7G>A	MKS1	Single nucleotide variant (intron variant)	MKS1-related disorder +2 more	GLikely benign
Select item 1120273	NM_017777.4(MKS1):c.1287G>A (p.Leu429=)	MKS1	Single nucleotide variant (synonymous variant +1 more)	MKS1-related disorder +2 more	GLikely benign
Select item 1114402	NM_017777.4(MKS1):c.522C>T (p.Gly174=)	MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	MKS1-related disorder +2 more	GLikely benign
Select item 1112758	NM_017777.4(MKS1):c.644+10G>A	MKS1	Single nucleotide variant (intron variant)	MKS1-related disorder +2 more	GLikely benign
Select item 1077552	NM_017777.4(MKS1):c.894C>T (p.Leu298=)	MKS1	Single nucleotide variant (synonymous variant)	MKS1-related disorder +2 more	GLikely benign
Select item 1043757	NM_017777.4(MKS1):c.428G>T (p.Arg143Ile)	MKS1 (R143I)	Single nucleotide variant (missense variant +1 more)	MKS1-related disorder +2 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 disorder +2 more	GUncertain significance
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 disorder +2 more	GUncertain significance
Select item 961598	NM_017777.4(MKS1):c.473G>A (p.Arg158Gln)	MKS1 (R158Q)	Single nucleotide variant (missense variant +1 more)	MKS1-related disorder +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 disorder +2 more	GConflicting classifications of pathogenicity
Select item 948526	NM_017777.4(MKS1):c.1534G>A (p.Val512Met)	MKS1 (V512M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 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)	Meckel-Gruber syndrome +4 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 disorder +2 more	GUncertain significance
Select item 863111	NM_017777.4(MKS1):c.858+6C>T	MKS1	Single nucleotide variant (intron variant)	not specified +3 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)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 851430	NM_017777.4(MKS1):c.811C>G (p.His271Asp)	MKS1 (H271D +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 704200	NM_017777.4(MKS1):c.1273+7G>A	MKS1	Single nucleotide variant (intron variant)	MKS1-related disorder +2 more	GLikely benign
Select item 700552	NM_017777.4(MKS1):c.1233T>C (p.Arg411=)	MKS1	Single nucleotide variant (synonymous variant)	MKS1-related disorder +2 more	GLikely benign
Select item 700059	NM_017777.4(MKS1):c.729G>A (p.Thr243=)	MKS1	Single nucleotide variant (synonymous variant)	MKS1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 698621	NM_017777.4(MKS1):c.1274-4G>T	MKS1	Single nucleotide variant (intron variant)	MKS1-related disorder +2 more	GLikely benign
Select item 698377	NM_017777.4(MKS1):c.672C>T (p.Val224=)	MKS1	Single nucleotide variant (synonymous variant)	MKS1-related disorder +2 more	GLikely benign
Select item 695906	NM_017777.4(MKS1):c.1260G>A (p.Leu420=)	MKS1	Single nucleotide variant (synonymous variant)	MKS1-related disorder +3 more	GLikely benign
Select item 695738	NM_017777.4(MKS1):c.1338G>A (p.Arg446=)	MKS1	Single nucleotide variant (synonymous variant +1 more)	MKS1-related disorder +2 more	GLikely benign
Select item 631779	NM_017777.4(MKS1):c.370C>T (p.Arg124Ter)	MKS1 (R124*)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 13 +5 more	GConflicting classifications of pathogenicity
Select item 631778	NM_017777.4(MKS1):c.1273+1G>A	MKS1	Single nucleotide variant (splice donor variant)	MKS1-related disorder	GUncertain significance
Select item 597924	NM_017777.4(MKS1):c.813C>A (p.His271Gln)	MKS1 (H271Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 597071	NM_017777.4(MKS1):c.1274-4G>A	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 596972	NM_017777.4(MKS1):c.1408-3C>T	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 595787	NM_017777.4(MKS1):c.36G>T (p.Glu12Asp)	LOC130061271, MKS1 (E12D)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 594505	NM_017777.4(MKS1):c.83T>C (p.Val28Ala)	MKS1 (V28A)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +3 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)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 593758	NM_017777.4(MKS1):c.515+8C>T	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 546082	NM_017777.4(MKS1):c.763G>C (p.Gly255Arg)	MKS1 (G255R +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 28 +6 more	GUncertain significance
Select item 516267	NM_017777.4(MKS1):c.-20C>T	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 509351	NM_017777.4(MKS1):c.80+14C>T	LOC130061271, MKS1	Single nucleotide variant (intron variant)	MKS1-related disorder +3 more	GLikely benign
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 +6 more	GUncertain significance
Select item 501079	NM_017777.4(MKS1):c.1653G>C (p.Val551=)	MKS1 (E524Q)	Single nucleotide variant (synonymous variant +2 more)	Meckel-Gruber syndrome +3 more	GConflicting classifications of pathogenicity
Select item 501078	NM_017777.4(MKS1):c.1605C>G (p.Ala535=)	MKS1 (P508A)	Single nucleotide variant (synonymous variant +2 more)	Meckel-Gruber syndrome +3 more	GConflicting classifications of pathogenicity
Select item 499889	NM_017777.4(MKS1):c.279C>T (p.Tyr93=)	MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel-Gruber syndrome +3 more	GConflicting classifications of pathogenicity
Select item 498841	NM_017777.4(MKS1):c.1298C>T (p.Thr433Met)	MKS1 (T433M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 445724	NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)	MKS1 (D286G +1 more)	Single nucleotide variant (missense variant)	MKS1-related disorder +7 more	GUncertain significance
Select item 435875	NM_017777.4(MKS1):c.538C>T (p.Arg180Cys)	MKS1 (R180C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +6 more	GUncertain significance
Select item 409981	NM_017777.4(MKS1):c.1134A>G (p.Glu378=)	MKS1	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 397617	NM_017777.4(MKS1):c.1607G>A (p.Arg536Gln)	MKS1 (R536Q +1 more)	Single nucleotide variant (synonymous variant +2 more)	MKS1-related disorder +4 more	GUncertain significance
Select item 387302	NM_017777.4(MKS1):c.1128G>A (p.Thr376=)	MKS1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 324169	NM_017777.4(MKS1):c.102A>G (p.Thr34=)	MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 324166	NM_017777.4(MKS1):c.491G>A (p.Arg164His)	MKS1 (R164H)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 324162	NM_017777.4(MKS1):c.813C>T (p.His271=)	MKS1	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 324159	NM_017777.4(MKS1):c.1322C>T (p.Thr441Met)	MKS1 (T441M +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +6 more	GConflicting classifications of pathogenicity
Select item 324157	NM_017777.4(MKS1):c.*75C>T	MKS1 (R558C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign

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