ClinVar for MedGen (Select 164078) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3730711	NM_014140.4(SMARCAL1):c.1148-20G>T	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3730345	NM_014140.4(SMARCAL1):c.2838C>G (p.Asn946Lys)	SMARCAL1 (N946K)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3727117	NM_014140.4(SMARCAL1):c.1644+12G>C	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3725244	NM_014140.4(SMARCAL1):c.2529-19G>C	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3705481	NM_014140.4(SMARCAL1):c.1414G>T (p.Ala472Ser)	SMARCAL1 (A472S)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3693508	NM_014140.4(SMARCAL1):c.2161C>A (p.Leu721Met)	SMARCAL1 (L721M)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3689907	NM_014140.4(SMARCAL1):c.2637G>A (p.Gln879=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3684167	NM_014140.4(SMARCAL1):c.1852-16G>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3681140	NM_014140.4(SMARCAL1):c.1096+14C>T	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3668418	NM_014140.4(SMARCAL1):c.1555C>T (p.Leu519=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3664636	NM_014140.4(SMARCAL1):c.2147A>G (p.Tyr716Cys)	SMARCAL1 (Y716C)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3663071	NM_014140.4(SMARCAL1):c.2245-17G>T	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3662079	NM_014140.4(SMARCAL1):c.261T>C (p.His87=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3661811	NM_014140.4(SMARCAL1):c.1404C>T (p.Ala468=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3657878	NM_014140.4(SMARCAL1):c.1641C>A (p.Ile547=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3649794	NM_014140.4(SMARCAL1):c.54A>G (p.Gln18=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3649603	NM_014140.4(SMARCAL1):c.933A>G (p.Ser311=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3646008	NM_014140.4(SMARCAL1):c.1272C>T (p.Asp424=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3643211	NM_014140.4(SMARCAL1):c.315C>T (p.Pro105=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3642380	NM_014140.4(SMARCAL1):c.2538T>A (p.Ile846=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3639692	NM_014140.4(SMARCAL1):c.207C>T (p.Val69=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3639487	NM_014140.4(SMARCAL1):c.1296C>G (p.Leu432=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3639472	NM_014140.4(SMARCAL1):c.2049A>G (p.Glu683=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3633217	NM_014140.4(SMARCAL1):c.687A>T (p.Ser229=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3623636	NM_014140.4(SMARCAL1):c.936C>T (p.Pro312=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3623500	NM_014140.4(SMARCAL1):c.2395G>A (p.Val799Met)	SMARCAL1 (V799M)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3620609	NM_014140.4(SMARCAL1):c.1352G>C (p.Gly451Ala)	SMARCAL1 (G451A)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3616322	NM_014140.4(SMARCAL1):c.2626-5T>C	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3612103	NM_014140.4(SMARCAL1):c.2244+18T>C	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3611527	NM_014140.4(SMARCAL1):c.2142-10T>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3607007	NM_014140.4(SMARCAL1):c.2142-14A>C	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3605705	NM_014140.4(SMARCAL1):c.1148-19C>T	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 3585631	NM_014140.4(SMARCAL1):c.2582C>T (p.Thr861Ile)	SMARCAL1 (T861I)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585630	NM_014140.4(SMARCAL1):c.2549T>C (p.Ile850Thr)	SMARCAL1 (I850T)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585629	NM_014140.4(SMARCAL1):c.2541A>G (p.Gln847=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585628	NM_014140.4(SMARCAL1):c.2473A>G (p.Ser825Gly)	SMARCAL1 (S825G)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585627	NM_014140.4(SMARCAL1):c.2423del (p.Pro808fs)	SMARCAL1 (P808fs)	Deletion (frameshift variant)	Schimke immuno-osseous dysplasia	GLikely pathogenic
Select item 3585626	NM_014140.4(SMARCAL1):c.2326A>G (p.Arg776Gly)	SMARCAL1 (R776G)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585625	NM_014140.4(SMARCAL1):c.2318T>C (p.Leu773Pro)	SMARCAL1 (L773P)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585624	NM_014140.4(SMARCAL1):c.2248_2256dup	SMARCAL1	Duplication	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585623	NM_014140.4(SMARCAL1):c.2142T>G (p.Ile714Met)	SMARCAL1 (I714M)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585622	NM_014140.4(SMARCAL1):c.2141+3A>C	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585621	NM_014140.4(SMARCAL1):c.2114C>G (p.Thr705Arg)	SMARCAL1 (T705R)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585620	NM_014140.4(SMARCAL1):c.2110A>G (p.Arg704Gly)	SMARCAL1 (R704G)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585619	NM_014140.4(SMARCAL1):c.2070+2_2070+3del	SMARCAL1	Microsatellite (splice donor variant)	Schimke immuno-osseous dysplasia	GLikely pathogenic
Select item 3585618	NM_014140.4(SMARCAL1):c.2065_2070delinsGAAACC (p.Lys689Glu)	SMARCAL1 (K689E)	Indel (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585617	NM_014140.4(SMARCAL1):c.1970A>G (p.Lys657Arg)	SMARCAL1 (K657R)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585616	NM_014140.4(SMARCAL1):c.1952_1953inv (p.Leu651Gln)	SMARCAL1 (L651Q)	Inversion (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585615	NM_014140.4(SMARCAL1):c.1871A>G (p.Tyr624Cys)	SMARCAL1 (Y624C)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585614	NM_014140.4(SMARCAL1):c.1851+1G>T	SMARCAL1	Single nucleotide variant (splice donor variant)	Schimke immuno-osseous dysplasia	GLikely pathogenic
Select item 3585613	NM_014140.4(SMARCAL1):c.1849C>T (p.Arg617Trp)	SMARCAL1 (R617W)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585612	NM_014140.4(SMARCAL1):c.1751T>C (p.Met584Thr)	SMARCAL1 (M584T)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585611	NM_014140.4(SMARCAL1):c.1733T>C (p.Leu578Ser)	SMARCAL1 (L578S)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585610	NM_014140.4(SMARCAL1):c.1696A>C (p.Met566Leu)	SMARCAL1 (M566L)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585609	NM_014140.4(SMARCAL1):c.1672dup (p.Arg558fs)	SMARCAL1 (R558fs)	Duplication (frameshift variant)	Schimke immuno-osseous dysplasia	GLikely pathogenic
Select item 3585608	NM_014140.4(SMARCAL1):c.1638CAT[1] (p.Ile548del)	SMARCAL1 (I548del)	Microsatellite	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585607	NM_014140.4(SMARCAL1):c.1580T>G (p.Val527Gly)	SMARCAL1 (V527G)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585606	NM_014140.4(SMARCAL1):c.1485+15A>G	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585605	NM_014140.4(SMARCAL1):c.1357C>T (p.Arg453Cys)	SMARCAL1 (R453C)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585604	NM_014140.4(SMARCAL1):c.1331T>A (p.Val444Asp)	SMARCAL1 (V444D)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585603	NM_014140.4(SMARCAL1):c.1313C>T (p.Pro438Leu)	SMARCAL1 (P438L)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585602	NM_014140.4(SMARCAL1):c.1311G>T (p.Met437Ile)	SMARCAL1 (M437I)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585601	NM_014140.4(SMARCAL1):c.1173A>G (p.Gln391=)	SMARCAL1	Single nucleotide variant (synonymous variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585600	NM_014140.4(SMARCAL1):c.970T>A (p.Ser324Thr)	SMARCAL1 (S324T)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585599	NM_014140.4(SMARCAL1):c.959C>T (p.Ala320Val)	SMARCAL1 (A320V)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585598	NM_014140.4(SMARCAL1):c.934C>A (p.Pro312Thr)	SMARCAL1 (P312T)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585597	NM_014140.4(SMARCAL1):c.862+6T>A	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585596	NM_014140.4(SMARCAL1):c.811+6G>T	SMARCAL1	Single nucleotide variant (intron variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585595	NM_014140.4(SMARCAL1):c.740G>C (p.Arg247Pro)	SMARCAL1 (R247P)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585594	NM_014140.4(SMARCAL1):c.709C>T (p.Gln237Ter)	SMARCAL1 (Q237*)	Single nucleotide variant (nonsense)	Schimke immuno-osseous dysplasia	GLikely pathogenic
Select item 3585593	NM_014140.4(SMARCAL1):c.651G>T (p.Arg217Ser)	SMARCAL1 (R217S)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585592	NM_014140.4(SMARCAL1):c.617dup (p.Tyr206Ter)	SMARCAL1 (Y206*)	Duplication (nonsense)	Schimke immuno-osseous dysplasia	GLikely pathogenic
Select item 3585591	NM_014140.4(SMARCAL1):c.604C>A (p.Gln202Lys)	SMARCAL1 (Q202K)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585590	NM_014140.4(SMARCAL1):c.598dup (p.Ser200fs)	SMARCAL1 (S200fs)	Duplication (frameshift variant)	Schimke immuno-osseous dysplasia	GLikely pathogenic
Select item 3585589	NM_014140.4(SMARCAL1):c.581C>T (p.Thr194Ile)	SMARCAL1 (T194I)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585588	NM_014140.4(SMARCAL1):c.581C>G (p.Thr194Arg)	SMARCAL1 (T194R)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585587	NM_014140.4(SMARCAL1):c.545_546delinsAT (p.Gly182Asp)	SMARCAL1 (G182D)	Indel (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585586	NM_014140.4(SMARCAL1):c.542_543del (p.Ser181fs)	SMARCAL1 (S181fs)	Microsatellite (frameshift variant)	Schimke immuno-osseous dysplasia	GLikely pathogenic
Select item 3585585	NM_014140.4(SMARCAL1):c.488C>T (p.Thr163Ile)	SMARCAL1 (T163I)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585584	NM_014140.4(SMARCAL1):c.407A>G (p.Gln136Arg)	SMARCAL1 (Q136R)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585583	NM_014140.4(SMARCAL1):c.389C>T (p.Pro130Leu)	SMARCAL1 (P130L)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585582	NM_014140.4(SMARCAL1):c.383A>G (p.Gln128Arg)	SMARCAL1 (Q128R)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585581	NM_014140.4(SMARCAL1):c.305_319del (p.Glu102_Thr106del)	SMARCAL1	Deletion	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585580	NM_014140.4(SMARCAL1):c.272G>T (p.Ser91Ile)	SMARCAL1 (S91I)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585579	NM_014140.4(SMARCAL1):c.269A>C (p.His90Pro)	SMARCAL1 (H90P)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585578	NM_014140.4(SMARCAL1):c.241A>G (p.Asn81Asp)	SMARCAL1 (N81D)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585577	NM_014140.4(SMARCAL1):c.200A>G (p.His67Arg)	SMARCAL1 (H67R)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585576	NM_014140.4(SMARCAL1):c.163C>A (p.Gln55Lys)	SMARCAL1 (Q55K)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585575	NM_014140.4(SMARCAL1):c.128C>T (p.Ala43Val)	SMARCAL1 (A43V)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585574	NM_014140.4(SMARCAL1):c.124A>T (p.Ile42Phe)	SMARCAL1 (I42F)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585573	NM_014140.4(SMARCAL1):c.113C>T (p.Ser38Leu)	SMARCAL1 (S38L)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585572	NM_014140.4(SMARCAL1):c.91G>A (p.Glu31Lys)	SMARCAL1 (E31K)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3585571	NM_014140.4(SMARCAL1):c.7T>G (p.Leu3Val)	SMARCAL1 (L3V)	Single nucleotide variant (missense variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3446059	NM_014140.4(SMARCAL1):c.2132C>T (p.Pro711Leu)	SMARCAL1 (P711L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3393103	NM_014140.4(SMARCAL1):c.64del (p.Ala22fs)	SMARCAL1 (A22fs)	Deletion (frameshift variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 3247223	NC_000002.11:g.(?_217303181)_(217308995_?)del	SMARCAL1	Deletion	Schimke immuno-osseous dysplasia	GLikely pathogenic
Select item 3247222	NC_000002.11:g.(?_217285002)_(217315807_?)dup	SMARCAL1	Duplication	Schimke immuno-osseous dysplasia	GLikely pathogenic
Select item 3247221	NC_000002.11:g.(?_217339972)_(217343042_?)del	SMARCAL1	Deletion	Schimke immuno-osseous dysplasia	GPathogenic
Select item 3247220	NC_000002.11:g.(?_217311721)_(217347700_?)del	SMARCAL1	Deletion	Schimke immuno-osseous dysplasia	GPathogenic
Select item 3247219	NC_000002.11:g.(?_217339982)_(217340184_?)del	SMARCAL1	Deletion	Schimke immuno-osseous dysplasia	GPathogenic

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