ABHD16A[gene] and "single gene"[properties] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2342537	NM_021160.3(ABHD16A):c.1636C>T (p.Pro546Ser)	ABHD16A (P546S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228796	NM_021160.3(ABHD16A):c.1573C>T (p.Arg525Trp)	ABHD16A (R492W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130593	NM_021160.3(ABHD16A):c.1528G>A (p.Asp510Asn)	ABHD16A (D477N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294073	NM_021160.3(ABHD16A):c.1501C>T (p.Arg501Cys)	ABHD16A (R468C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2630548	NM_021160.3(ABHD16A):c.1465T>C (p.Trp489Arg)	ABHD16A (W456R +1 more)	Single nucleotide variant (missense variant +1 more)	ABHD16A-related disorder	GUncertain significance
Select item 1297464	NM_021160.3(ABHD16A):c.1456del (p.Tyr486fs)	ABHD16A (Y453fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive complex spastic paraplegia	GLikely pathogenic
Select item 2411220	NM_021160.3(ABHD16A):c.1453A>G (p.Ile485Val)	ABHD16A (I452V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2264286	NM_021160.3(ABHD16A):c.1448-4C>G	ABHD16A	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3130588	NM_021160.3(ABHD16A):c.1381G>C (p.Val461Leu)	ABHD16A (V428L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1162195	NM_021160.3(ABHD16A):c.1370G>A (p.Arg457Gln)	ABHD16A (R424Q +1 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia 86, autosomal recessive +1 more	GPathogenic
Select item 2204336	NM_021160.3(ABHD16A):c.1334G>A (p.Arg445Gln)	ABHD16A (R412Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1199390	NM_021160.3(ABHD16A):c.1333C>T (p.Arg445Ter)	ABHD16A (R412* +1 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia	GUncertain significance
Select item 2571245	NM_021160.3(ABHD16A):c.1307+8_1307+11dup	ABHD16A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2571246	NM_021160.3(ABHD16A):c.1236G>A (p.Ala412=)	ABHD16A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3025239	NM_021160.3(ABHD16A):c.1233C>T (p.Asn411=)	ABHD16A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1199389	NM_021160.3(ABHD16A):c.1226T>G (p.Leu409Arg)	ABHD16A (L376R +1 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 3130582	NM_021160.3(ABHD16A):c.1174C>T (p.Pro392Ser)	ABHD16A (P359S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1341326	NM_021160.3(ABHD16A):c.835C>T (p.Gln279Ter)	ABHD16A (Q246*)	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic paraplegia 86, autosomal recessive	GPathogenic
Select item 1199393	NM_021160.3(ABHD16A):c.755G>A (p.Arg252Gln)	ABHD16A (R219Q +1 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2545434	NM_021160.3(ABHD16A):c.751C>T (p.Arg251Cys)	ABHD16A (R218C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459807	NM_021160.3(ABHD16A):c.655C>T (p.Arg219Trp)	ABHD16A (R186W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313747	NM_021160.3(ABHD16A):c.652C>T (p.Arg218Cys)	ABHD16A (R218C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3239034	NM_021160.3(ABHD16A):c.639G>A (p.Ala213=)	ABHD16A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1199391	NM_021160.3(ABHD16A):c.573del (p.Thr192fs)	ABHD16A (T159fs +1 more)	Deletion (frameshift variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 3036500	NM_021160.3(ABHD16A):c.568C>T (p.Arg190Trp)	ABHD16A (R157W +1 more)	Single nucleotide variant (missense variant +1 more)	ABHD16A-related disorder	GLikely benign
Select item 2656415	NM_021160.3(ABHD16A):c.551G>T (p.Arg184Leu)	ABHD16A (R151L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2236218	NM_021160.3(ABHD16A):c.539T>C (p.Val180Ala)	ABHD16A (V147A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130612	NM_021160.3(ABHD16A):c.532C>T (p.Arg178Trp)	ABHD16A (R145W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2491093	NM_021160.3(ABHD16A):c.523C>T (p.Pro175Ser)	ABHD16A (P175S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308884	NM_021160.3(ABHD16A):c.461G>A (p.Arg154Gln)	ABHD16A (R121Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511014	NM_021160.3(ABHD16A):c.459C>A (p.Phe153Leu)	ABHD16A (F120L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130608	NM_021160.3(ABHD16A):c.407G>A (p.Arg136Gln)	ABHD16A (R103Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130606	NM_021160.3(ABHD16A):c.406C>T (p.Arg136Trp)	ABHD16A (R103W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458728	NM_021160.3(ABHD16A):c.374G>A (p.Arg125Gln)	ABHD16A (R92Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491301	NM_021160.3(ABHD16A):c.373C>T (p.Arg125Trp)	ABHD16A (R92W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1199392	NM_021160.3(ABHD16A):c.362A>T (p.Asn121Ile)	ABHD16A (N121I +1 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1199388	NM_021160.3(ABHD16A):c.353G>A (p.Arg118His)	ABHD16A (R118H +1 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2222596	NM_021160.3(ABHD16A):c.352C>T (p.Arg118Cys)	ABHD16A (R118C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1162196	NM_021160.3(ABHD16A):c.340C>T (p.Arg114Ter)	ABHD16A (R114* +1 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia 86, autosomal recessive +1 more	GPathogenic
Select item 2671941	NM_021160.3(ABHD16A):c.260A>G (p.Tyr87Cys)	ABHD16A (Y54C +1 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia 86, autosomal recessive	GUncertain significance
Select item 3130597	NM_021160.3(ABHD16A):c.233C>T (p.Ala78Val)	ABHD16A (A78V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3130577	NM_021160.3(ABHD16A):c.100A>G (p.Thr34Ala)	ABHD16A (T34A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3048133	NM_021160.3(ABHD16A):c.85G>C (p.Val29Leu)	ABHD16A (V29L)	Single nucleotide variant (missense variant +1 more)	ABHD16A-related disorder	GLikely benign
Select item 3130626	NM_021160.3(ABHD16A):c.77C>T (p.Pro26Leu)	ABHD16A (P26L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259164	NM_021160.3(ABHD16A):c.71G>C (p.Arg24Thr)	ABHD16A (R24T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3026535	NM_021160.3(ABHD16A):c.22G>A (p.Val8Ile)	ABHD16A (V8I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1701872	NM_021160.3(ABHD16A):c.19T>C (p.Cys7Arg)	ABHD16A (C7R)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance

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Items: 47