SMARCD1[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 58211	GRCh38/hg38 12q13.12(chr12:49840075-50315208)x3	AQP2, AQP5 +43 more	Copy number gain	See cases	GUncertain significance
Select item 2642974	NM_003076.5(SMARCD1):c.89C>T (p.Pro30Leu)	LOC130007872, SMARCD1 (P30L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805057	NM_003076.5(SMARCD1):c.107C>T (p.Pro36Leu)	LOC130007872, SMARCD1 (P36L)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 11 +1 more	GUncertain significance
Select item 2499696	NM_003076.5(SMARCD1):c.110C>T (p.Pro37Leu)	LOC130007872, SMARCD1 (P37L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2477834	NM_003076.5(SMARCD1):c.130C>T (p.Pro44Ser)	LOC130007872, SMARCD1 (P44S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1709221	NM_003076.5(SMARCD1):c.142C>G (p.Leu48Val)	LOC130007872, SMARCD1 (L48V)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 11 +1 more	GUncertain significance
Select item 986177	NM_003076.5(SMARCD1):c.148C>G (p.Arg50Gly)	LOC130007872, SMARCD1 (R50G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504539	NM_003076.5(SMARCD1):c.158T>C (p.Met53Thr)	LOC130007872, SMARCD1 (M53T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1349203	NM_003076.5(SMARCD1):c.167C>G (p.Ala56Gly)	LOC130007872, SMARCD1 (A56G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976063	NM_003076.5(SMARCD1):c.177G>A (p.Pro59=)	LOC130007872, SMARCD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1283034	NM_003076.5(SMARCD1):c.178-9C>T	SMARCD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1684096	NM_003076.5(SMARCD1):c.178-5T>G	SMARCD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2303954	NM_003076.5(SMARCD1):c.200G>T (p.Ser67Ile)	SMARCD1 (S67I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1805271	NM_003076.5(SMARCD1):c.203G>A (p.Arg68Gln)	SMARCD1 (R68Q)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 11	GLikely benign
Select item 2690049	NM_003076.5(SMARCD1):c.253C>T (p.Pro85Ser)	SMARCD1 (P85S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 11	GUncertain significance
Select item 2642975	NM_003076.5(SMARCD1):c.299G>T (p.Arg100Leu)	SMARCD1 (R100L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642976	NM_003076.5(SMARCD1):c.336G>T (p.Gln112His)	SMARCD1 (Q112H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2342220	NM_003076.5(SMARCD1):c.344C>T (p.Ala115Val)	SMARCD1 (A115V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2499754	NM_003076.5(SMARCD1):c.365A>G (p.Asn122Ser)	SMARCD1 (N122S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1245538	NM_003076.5(SMARCD1):c.366-132_366-131insAGTGGTGGT	SMARCD1	Microsatellite (intron variant)	not provided	GBenign
Select item 1220623	NM_003076.5(SMARCD1):c.366-119A>G	SMARCD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2274178	NM_003076.5(SMARCD1):c.436G>A (p.Ala146Thr)	SMARCD1 (A146T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2663343	NM_003076.5(SMARCD1):c.449dup (p.Ala152fs)	SMARCD1 (A152fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1702713	NM_003076.5(SMARCD1):c.451_452del (p.Leu151fs)	SMARCD1 (L151fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1708296	NM_003076.5(SMARCD1):c.494G>A (p.Arg165Gln)	SMARCD1 (R165Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1702543	NM_003076.5(SMARCD1):c.503T>C (p.Ile168Thr)	SMARCD1 (I168T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2627805	NM_003076.5(SMARCD1):c.521G>A (p.Arg174His)	SMARCD1 (R174H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 1675495	NM_003076.5(SMARCD1):c.550A>G (p.Ile184Val)	SMARCD1 (I184V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342564	NM_003076.5(SMARCD1):c.566C>G (p.Thr189Ser)	SMARCD1 (T189S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 11	GUncertain significance
Select item 1310028	NM_003076.5(SMARCD1):c.566C>T (p.Thr189Ile)	SMARCD1 (T189I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642977	NM_003076.5(SMARCD1):c.609G>A (p.Thr203=)	SMARCD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2444761	NM_003076.5(SMARCD1):c.640C>T (p.Arg214Trp)	SMARCD1 (R214W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275244	NM_003076.5(SMARCD1):c.655-93T>C	SMARCD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1678270	NM_003076.5(SMARCD1):c.692G>A (p.Arg231Lys)	SMARCD1 (R231K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577611	NM_003076.5(SMARCD1):c.740A>G (p.Asp247Gly)	SMARCD1 (D247G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1722902	NM_003076.5(SMARCD1):c.763C>G (p.Leu255Val)	SMARCD1 (L255V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1288799	NM_003076.5(SMARCD1):c.772-221G>C	SMARCD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642978	NM_003076.5(SMARCD1):c.772-36C>T	SMARCD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3068998	NM_003076.5(SMARCD1):c.772-12del	SMARCD1	Deletion (intron variant)	not specified	GLikely benign
Select item 1711340	NM_003076.5(SMARCD1):c.825G>C (p.Pro275=)	SMARCD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1222154	NM_003076.5(SMARCD1):c.874-11G>A	SMARCD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2499786	NM_003076.5(SMARCD1):c.877C>G (p.Pro293Ala)	SMARCD1 (P293A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2203774	NM_003076.5(SMARCD1):c.890T>C (p.Leu297Ser)	SMARCD1 (L297S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 11	GUncertain significance
Select item 1345008	NM_003076.5(SMARCD1):c.898C>A (p.Arg300Ser)	SMARCD1 (R300S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663621	NM_003076.5(SMARCD1):c.967A>G (p.Ile323Val)	SMARCD1 (I323V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812679	NM_003076.5(SMARCD1):c.990C>G (p.Asp330Glu)	SMARCD1 (D330E)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 11	GPathogenic
Select item 986256	NM_003076.5(SMARCD1):c.1001G>A (p.Arg334Gln)	SMARCD1 (R334Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498558	NM_003076.5(SMARCD1):c.1036-4A>G	SMARCD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1687715	NM_003076.5(SMARCD1):c.1051C>T (p.Arg351Cys)	SMARCD1 (R351C)	Single nucleotide variant (missense variant)	Alopecia, androgenetic, 1	GLikely pathogenic
Select item 3166338	NM_003076.5(SMARCD1):c.1054A>G (p.Met352Val)	SMARCD1 (M352V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2578522	NM_003076.5(SMARCD1):c.1134-1G>A	SMARCD1	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 1282660	NM_003076.5(SMARCD1):c.1269+192G>A	SMARCD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 985347	NM_003076.5(SMARCD1):c.1282A>G (p.Ile428Val)	SMARCD1 (I428V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1700817	NM_003076.5(SMARCD1):c.1312C>T (p.Arg438Trp)	SMARCD1 (R438W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 812680	NM_003076.5(SMARCD1):c.1336A>G (p.Arg446Gly)	SMARCD1 (R446G)	Single nucleotide variant (missense variant +1 more)	Coffin-Siris syndrome 11	GPathogenic
Select item 1723803	NM_003076.5(SMARCD1):c.1417C>T (p.Pro473Ser)	SMARCD1 (P432S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1251964	NM_003076.5(SMARCD1):c.1432dup (p.Arg478fs)	SMARCD1 (R437fs +1 more)	Duplication (frameshift variant)	Coffin-Siris syndrome 11	GPathogenic
Select item 812681	NM_003076.5(SMARCD1):c.1457G>A (p.Trp486Ter)	SMARCD1 (W486* +1 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 11	GPathogenic
Select item 2436141	NM_003076.5(SMARCD1):c.1460C>G (p.Ala487Gly)	SMARCD1 (A446G +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 11	GUncertain significance
Select item 812682	NM_003076.5(SMARCD1):c.1483T>C (p.Phe495Leu)	SMARCD1 (F495L +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 11	GPathogenic
Select item 2577672	NM_003076.5(SMARCD1):c.1486T>C (p.Tyr496His)	SMARCD1 (Y455H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574498	NM_003076.5(SMARCD1):c.1495G>A (p.Val499Met)	SMARCD1 (V458M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812683	NM_003076.5(SMARCD1):c.1507C>T (p.Arg503Ter)	SMARCD1 (R503* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 68