"Fulgent Genetics, Fulgent Genetics"[submitter] AND "OBSL1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 283126	NM_015311.3(OBSL1):c.5202C>A (p.Asp1734Glu)	OBSL1 (D1734E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 334489	NM_015311.3(OBSL1):c.4005C>A (p.Asp1335Glu)	OBSL1 (D1335E)	Single nucleotide variant (missense variant)	3M syndrome 2 +1 more	GUncertain significance
Select item 374350	NM_015311.3(OBSL1):c.3955C>T (p.Gln1319Ter)	OBSL1 (Q1319*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 289411	NM_015311.3(OBSL1):c.3937G>A (p.Gly1313Arg)	OBSL1 (G1313R)	Single nucleotide variant (missense variant)	3M syndrome 2 +1 more	GUncertain significance
Select item 895852	NM_015311.3(OBSL1):c.3355C>T (p.Leu1119=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1011464	NM_015311.3(OBSL1):c.3292C>T (p.Arg1098Cys)	OBSL1 (R1098C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1167788	NM_015311.3(OBSL1):c.2577_2578delinsTT (p.Pro860Ser)	OBSL1 (P860S)	Indel (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 717900	NM_015311.3(OBSL1):c.2578C>T (p.Pro860Ser)	OBSL1 (P860S)	Single nucleotide variant (missense variant)	3M syndrome 2 +1 more	GBenign/Likely benign
Select item 717901	NM_015311.3(OBSL1):c.2577G>T (p.Gly859=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2 +1 more	GBenign/Likely benign
Select item 290129	NM_015311.3(OBSL1):c.580C>T (p.Leu194=)	OBSL1	Single nucleotide variant (synonymous variant)	3M syndrome 2 +2 more	GBenign
Select item 283605	NM_015311.3(OBSL1):c.423G>A (p.Arg141=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 193385	NM_015311.3(OBSL1):c.75T>G (p.Ser25Arg)	OBSL1 (S25R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance