Related gene-specific medical variations for Gene (Select 6602) - ClinVar - NCBI

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Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3446121	NM_003076.5(SMARCD1):c.20T>A (p.Phe7Tyr)	LOC130007872, SMARCD1 (F7Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3446119	NM_003076.5(SMARCD1):c.143T>C (p.Leu48Pro)	LOC130007872, SMARCD1 (L48P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3376049	NM_003076.5(SMARCD1):c.131C>T (p.Pro44Leu)	LOC130007872, SMARCD1 (P44L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361833	NM_003076.5(SMARCD1):c.298C>T (p.Arg100Cys)	SMARCD1 (R100C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360044	NM_003076.5(SMARCD1):c.892G>T (p.Asp298Tyr)	SMARCD1 (D298Y)	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 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 2642974	NM_003076.5(SMARCD1):c.89C>T (p.Pro30Leu)	LOC130007872, SMARCD1 (P30L)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 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 1349203	NM_003076.5(SMARCD1):c.167C>G (p.Ala56Gly)	LOC130007872, SMARCD1 (A56G)	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 +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