ABHD14B[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3130496	NM_001146314.2(ABHD14B):c.558G>A (p.Ala186=)	ABHD14B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2481526	NM_001146314.2(ABHD14B):c.535C>T (p.Arg179Trp)	ABHD14B (R179W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386189	NM_001146314.2(ABHD14B):c.386C>T (p.Pro129Leu)	ABHD14B (P129L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463150	NM_001146314.2(ABHD14B):c.317T>C (p.Val106Ala)	ABHD14B (V106A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313356	NM_001146314.2(ABHD14B):c.314C>A (p.Pro105Gln)	ABHD14B (P105Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512540	NM_001146314.2(ABHD14B):c.250A>G (p.Ile84Val)	ABHD14B (I46V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613029	NM_001146314.2(ABHD14B):c.241C>G (p.Pro81Ala)	ABHD14B (P81A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599904	NM_001146314.2(ABHD14B):c.241C>T (p.Pro81Ser)	ABHD14B (P43S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205073	NM_001146314.2(ABHD14B):c.224C>G (p.Ser75Cys)	ABHD14B (S37C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510568	NM_001146314.2(ABHD14B):c.187C>T (p.Arg63Trp)	ABHD14B (R63W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130474	NM_001146314.2(ABHD14B):c.136G>A (p.Glu46Lys)	ABHD14B (E46K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467170	NM_001146314.2(ABHD14B):c.131C>T (p.Ser44Phe)	ABHD14B (S44F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130473	NM_001146314.2(ABHD14B):c.124C>T (p.Arg42Cys)	ABHD14B (R42C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509083	NM_001146314.2(ABHD14B):c.79G>A (p.Gly27Ser)	ABHD14B (G27S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3130499	NM_001146314.2(ABHD14B):c.65G>A (p.Arg22Gln)	ABHD14B (R22Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance