"Ambry Genetics"[submitter] AND "LOC112268269"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2342635	NM_080622.4(ABHD16B):c.19G>A (p.Val7Met)	LOC112268269, ABHD16B (V7M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309864	NM_080622.4(ABHD16B):c.112G>A (p.Val38Met)	LOC112268269, ABHD16B (V38M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218567	NM_080622.4(ABHD16B):c.125G>C (p.Gly42Ala)	LOC112268269, ABHD16B (G42A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454748	NM_080622.4(ABHD16B):c.136A>G (p.Ser46Gly)	ABHD16B, LOC112268269 (S46G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2596408	NM_080622.4(ABHD16B):c.142C>T (p.Arg48Trp)	ABHD16B, LOC112268269 (R48W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262769	NM_080622.4(ABHD16B):c.143G>A (p.Arg48Gln)	ABHD16B, LOC112268269 (R48Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261362	NM_080622.4(ABHD16B):c.158C>T (p.Ala53Val)	ABHD16B, LOC112268269 (A53V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479568	NM_080622.4(ABHD16B):c.200T>C (p.Leu67Pro)	ABHD16B, LOC112268269 (L67P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229707	NM_080622.4(ABHD16B):c.287A>C (p.Gln96Pro)	ABHD16B, LOC112268269 (Q96P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376569	NM_080622.4(ABHD16B):c.359C>T (p.Thr120Met)	LOC112268269, ABHD16B (T120M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600721	NM_080622.4(ABHD16B):c.361C>T (p.Arg121Cys)	ABHD16B, LOC112268269 (R121C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597843	NM_080622.4(ABHD16B):c.388G>A (p.Gly130Ser)	ABHD16B, LOC112268269 (G130S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525381	NM_080622.4(ABHD16B):c.424C>G (p.Arg142Gly)	ABHD16B, LOC112268269 (R142G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288254	NM_080622.4(ABHD16B):c.545G>T (p.Gly182Val)	ABHD16B, LOC112268269 (G182V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467208	NM_080622.4(ABHD16B):c.575C>T (p.Pro192Leu)	ABHD16B, LOC112268269 (P192L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614342	NM_080622.4(ABHD16B):c.583G>A (p.Ala195Thr)	ABHD16B, LOC112268269 (A195T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519604	NM_080622.4(ABHD16B):c.654C>A (p.His218Gln)	ABHD16B, LOC112268269 (H218Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344126	NM_080622.4(ABHD16B):c.696C>G (p.His232Gln)	ABHD16B, LOC112268269 (H232Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465598	NM_080622.4(ABHD16B):c.807C>G (p.Asp269Glu)	ABHD16B, LOC112268269 (D269E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380241	NM_080622.4(ABHD16B):c.899A>G (p.Asn300Ser)	ABHD16B, LOC112268269 (N300S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335420	NM_080622.4(ABHD16B):c.955C>A (p.Arg319Ser)	ABHD16B, LOC112268269 (R319S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556574	NM_080622.4(ABHD16B):c.976A>G (p.Ser326Gly)	ABHD16B, LOC112268269 (S326G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559349	NM_080622.4(ABHD16B):c.1025A>G (p.Asn342Ser)	ABHD16B, LOC112268269 (N342S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262738	NM_080622.4(ABHD16B):c.1063C>A (p.Arg355Ser)	ABHD16B, LOC112268269 (R355S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486315	NM_080622.4(ABHD16B):c.1102G>A (p.Val368Ile)	ABHD16B, LOC112268269 (V368I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373551	NM_080622.4(ABHD16B):c.1162C>G (p.Arg388Gly)	LOC112268269, ABHD16B (R388G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607144	NM_080622.4(ABHD16B):c.1208C>A (p.Ala403Glu)	ABHD16B, LOC112268269 (A403E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311211	NM_080622.4(ABHD16B):c.1255G>A (p.Gly419Arg)	ABHD16B, LOC112268269 (G419R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465054	NM_080622.4(ABHD16B):c.1300C>T (p.Arg434Trp)	ABHD16B, LOC112268269 (R434W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486582	NM_080622.4(ABHD16B):c.1303C>T (p.Arg435Cys)	ABHD16B, LOC112268269 (R435C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347380	NM_080622.4(ABHD16B):c.1331G>T (p.Arg444Leu)	ABHD16B, LOC112268269 (R444L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614656	NM_080622.4(ABHD16B):c.1378C>T (p.Pro460Ser)	ABHD16B, LOC112268269 (P460S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 32