Related gene-specific medical variations for Gene (Select 6599) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359116	NM_003074.4(SMARCC1):c.1297C>T (p.Arg433Ter)	SMARCC1 (R433*)	Single nucleotide variant (nonsense)	Hydrocephalus, congenital, 5, susceptibility to	GPathogenic
Select item 3050649	NM_003074.4(SMARCC1):c.-10_-9del	LOC112935944, SMARCC1	Deletion (5 prime UTR variant)	SMARCC1-related disorder	GLikely benign
Select item 3042633	NM_003074.4(SMARCC1):c.-10_-9insCC	LOC112935944, SMARCC1	Insertion (5 prime UTR variant)	SMARCC1-related disorder	GLikely benign
Select item 2690047	NM_003074.4(SMARCC1):c.3059del (p.Pro1020fs)	SMARCC1 (P1020fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2690046	NM_003074.4(SMARCC1):c.3224C>A (p.Pro1075His)	SMARCC1 (P1075H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690045	NM_003074.4(SMARCC1):c.3095G>A (p.Arg1032His)	SMARCC1 (R1032H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429857	NM_003074.4(SMARCC1):c.2236C>T (p.Arg746Ter)	SMARCC1 (R746*)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GUncertain significance
Select item 1177324	NM_003074.4:c.402-?_483+?del	SMARCC1	Deletion	SMARCC1-associated developmental dysgenesis syndrome	GUncertain significance
Select item 1177323	NM_003074.4:c.402-?_646+?del	SMARCC1	Deletion	SMARCC1-associated developmental dysgenesis syndrome	GUncertain significance
Select item 684694	NM_003074.4(SMARCC1):c.1242_1243dup (p.Thr415fs)	SMARCC1 (T415fs)	Duplication (frameshift variant)	Congenital hydrocephalus	GLikely pathogenic
Select item 684693	NM_003074.4(SMARCC1):c.535A>T (p.Lys179Ter)	SMARCC1 (K179*)	Single nucleotide variant (nonsense)	Congenital hydrocephalus	GLikely pathogenic
Select item 684690	NM_003074.4(SMARCC1):c.1589_1590insAGTGGGGACTC (p.Gln531fs)	SMARCC1 (Q531fs)	Insertion (frameshift variant)	Congenital hydrocephalus	GLikely pathogenic