ABHD12B[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 58307	GRCh38/hg38 14q21.3-22.1(chr14:50091150-51777325)x3	ABHD12B, ATL1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic
Select item 58308	GRCh38/hg38 14q22.1(chr14:50713909-50954844)x3	ABHD12B, LOC105370489 +23 more	Copy number gain	See cases	GUncertain significance
Select item 2350010	NM_001206673.2(ABHD12B):c.7G>A (p.Ala3Thr)	ABHD12B (A3T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351291	NM_001206673.2(ABHD12B):c.35C>T (p.Pro12Leu)	ABHD12B (P12L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2300369	NM_001206673.2(ABHD12B):c.71C>A (p.Ala24Asp)	ABHD12B (A24D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460818	NM_001206673.2(ABHD12B):c.112C>G (p.Pro38Ala)	ABHD12B (P38A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507885	NM_001206673.2(ABHD12B):c.128T>C (p.Met43Thr)	ABHD12B (M43T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2644234	NM_001206673.2(ABHD12B):c.132C>T (p.Leu44=)	ABHD12B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2375545	NM_001206673.2(ABHD12B):c.155A>G (p.Tyr52Cys)	ABHD12B (Y52C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318375	NM_001206673.2(ABHD12B):c.212T>C (p.Met71Thr)	ABHD12B (M71T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130299	NM_001206673.2(ABHD12B):c.314C>T (p.Pro105Leu)	ABHD12B (P105L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2311854	NM_001206673.2(ABHD12B):c.334T>C (p.Trp112Arg)	ABHD12B (W112R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318099	NM_001206673.2(ABHD12B):c.382T>C (p.Cys128Arg)	ABHD12B (C128R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3130308	NM_001206673.2(ABHD12B):c.407G>C (p.Arg136Pro)	ABHD12B (R136P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532636	NM_001206673.2(ABHD12B):c.422T>C (p.Ile141Thr)	ABHD12B (I34T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487697	NM_001206673.2(ABHD12B):c.470G>C (p.Arg157Thr)	ABHD12B (R80T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024734	NC_000014.9:g.50881627G>T	ABHD12B, PYGL	Single nucleotide variant (splice donor variant)	not provided	GBenign
Select item 2600510	NM_001206673.2(ABHD12B):c.525C>A (p.Asp175Glu)	ABHD12B (D175E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317909	NM_001206673.2(ABHD12B):c.536T>G (p.Phe179Cys)	ABHD12B (F72C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400979	NM_001206673.2(ABHD12B):c.536T>C (p.Phe179Ser)	ABHD12B (F72S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130326	NM_001206673.2(ABHD12B):c.548C>T (p.Thr183Ile)	ABHD12B (T106I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406987	NM_001206673.2(ABHD12B):c.553A>G (p.Lys185Glu)	ABHD12B (K185E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318286	NM_001206673.2(ABHD12B):c.568G>A (p.Gly190Arg)	ABHD12B (G113R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130333	NM_001206673.2(ABHD12B):c.575C>T (p.Thr192Ile)	ABHD12B (T115I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130339	NM_001206673.2(ABHD12B):c.583G>A (p.Ala195Thr)	ABHD12B (A88T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318189	NM_001206673.2(ABHD12B):c.707C>A (p.Pro236Gln)	ABHD12B (P129Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351903	NM_001206673.2(ABHD12B):c.791A>T (p.Asn264Ile)	ABHD12B (N157I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498593	NM_001206673.2(ABHD12B):c.813A>G (p.Thr271=)	ABHD12B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3318005	NM_001206673.2(ABHD12B):c.848T>C (p.Phe283Ser)	ABHD12B (F176S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607412	NM_001206673.2(ABHD12B):c.916A>G (p.Thr306Ala)	ABHD12B (T306A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606600	NM_001206673.2(ABHD12B):c.940A>G (p.Lys314Glu)	ABHD12B (K207E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250554	NM_001206673.2(ABHD12B):c.958C>T (p.Arg320Cys)	ABHD12B (R213C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2338183	NM_001206673.2(ABHD12B):c.974A>T (p.Asn325Ile)	ABHD12B (N218I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484294	NM_001206673.2(ABHD12B):c.985G>T (p.Val329Phe)	ABHD12B (V329F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610457	NM_001206673.2(ABHD12B):c.1055C>A (p.Thr352Asn)	ABHD12B (T275N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527817	GRCh37/hg19 14q21.3-22.1(chr14:50598842-52261074)	ABHD12B, ATL1 +11 more	Copy number gain	not specified	GUncertain significance
Select item 815655	GRCh37/hg19 14q21.3-22.1(chr14:50317272-51627752)x3	NEMF, SAV1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 689208	GRCh37/hg19 14q22.1(chr14:51357592-51951601)x3	ABHD12B, PYGL +2 more	Copy number gain	not provided	GUncertain significance
Select item 564127	GRCh37/hg19 14q22.1(chr14:50977957-51680043)x3	TRIM9, SAV1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 47