ABHD14A[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 2613717	NM_015407.5(ABHD14A):c.7G>T (p.Gly3Trp)	ABHD14A, ABHD14A-ACY1 +1 more (G3W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3130425	NM_015407.5(ABHD14A):c.29T>G (p.Phe10Cys)	ABHD14A, ABHD14A-ACY1 +1 more (F10C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2343682	NM_015407.5(ABHD14A):c.62T>G (p.Leu21Trp)	ABHD14A, ABHD14A-ACY1 +1 more (L21W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3130456	NM_015407.5(ABHD14A):c.68C>G (p.Pro23Arg)	ABHD14A, ABHD14A-ACY1 +1 more (P23R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3130466	NM_015407.5(ABHD14A):c.79C>G (p.Gln27Glu)	ABHD14A, ABHD14A-ACY1 (Q27E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2495970	NM_015407.5(ABHD14A):c.115G>C (p.Gly39Arg)	ABHD14A, ABHD14A-ACY1 (G39R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3130408	NM_015407.5(ABHD14A):c.124C>G (p.Leu42Val)	ABHD14A, ABHD14A-ACY1 (L42V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2266483	NM_015407.5(ABHD14A):c.133A>G (p.Met45Val)	ABHD14A, ABHD14A-ACY1 (M45V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2621479	NM_015407.5(ABHD14A):c.161G>A (p.Gly54Asp)	ABHD14A, ABHD14A-ACY1 (A6T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262288	NM_015407.5(ABHD14A):c.200A>G (p.Asn67Ser)	ABHD14A, ABHD14A-ACY1 (N67S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217786	NM_015407.5(ABHD14A):c.270C>G (p.Asn90Lys)	ABHD14A, ABHD14A-ACY1 (T42S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130429	NM_015407.5(ABHD14A):c.333G>T (p.Glu111Asp)	ABHD14A, ABHD14A-ACY1 (S63I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130431	NM_015407.5(ABHD14A):c.337C>G (p.Leu113Val)	ABHD14A, ABHD14A-ACY1 (S64R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478625	NM_015407.5(ABHD14A):c.376G>C (p.Ala126Pro)	ABHD14A, ABHD14A-ACY1 (A126P)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2214532	NM_015407.5(ABHD14A):c.379G>A (p.Val127Met)	ABHD14A, ABHD14A-ACY1 (V127M)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2210428	NM_015407.5(ABHD14A):c.446G>A (p.Arg149Gln)	ABHD14A, ABHD14A-ACY1 (R149Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455306	NM_015407.5(ABHD14A):c.467C>T (p.Ala156Val)	ABHD14A, ABHD14A-ACY1 (A156V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3130445	NM_015407.5(ABHD14A):c.583G>C (p.Ala195Pro)	ABHD14A, ABHD14A-ACY1 (A195P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223672	NM_015407.5(ABHD14A):c.677C>T (p.Ala226Val)	ABHD14A, ABHD14A-ACY1 (A226V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130453	NM_015407.5(ABHD14A):c.680G>A (p.Arg227Gln)	ABHD14A, ABHD14A-ACY1 (R227Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130460	NM_015407.5(ABHD14A):c.691C>T (p.Arg231Trp)	ABHD14A, ABHD14A-ACY1 (R231W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233769	NM_015407.5(ABHD14A):c.700C>T (p.Arg234Cys)	ABHD14A, ABHD14A-ACY1 (R234C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613391	NM_015407.5(ABHD14A):c.713A>G (p.Asn238Ser)	ABHD14A, ABHD14A-ACY1 (N238S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460437	NM_015407.5(ABHD14A):c.734G>C (p.Arg245Pro)	ABHD14A, ABHD14A-ACY1 (R245P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277668	NM_015407.5(ABHD14A):c.755A>G (p.Tyr252Cys)	ABHD14A, ABHD14A-ACY1 (Y252C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2423345	NC_000003.11:g.(?_52010900)_(52019232_?)del	ABHD14A, ACY1	Deletion	not provided	GUncertain significance
Select item 980509	GRCh37/hg19 3p21.2-21.1(chr3:51975459-52561678)x4	RRP9, SEMA3G +23 more	Copy number gain	not provided	GUncertain significance
Select item 814444	GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3	ABHD14A, ABHD14B +48 more	Copy number gain	not provided	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	AMT, APEH +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic

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Items: 34