"Ambry Genetics"[submitter] AND "ABHD17A"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2329938	NM_001130111.2(ABHD17A):c.884A>G (p.Glu295Gly)	ABHD17A (E346G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321546	NM_001130111.2(ABHD17A):c.869A>G (p.Tyr290Cys)	ABHD17A (Y290C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130815	NM_001130111.2(ABHD17A):c.817G>A (p.Ala273Thr)	ABHD17A (A273T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384843	NM_001130111.2(ABHD17A):c.802G>C (p.Glu268Gln)	ABHD17A (E268Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130813	NM_001130111.2(ABHD17A):c.604C>G (p.Arg202Gly)	ABHD17A (R202G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130810	NM_001130111.2(ABHD17A):c.567G>C (p.Gln189His)	ABHD17A (Q189H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130806	NM_001130111.2(ABHD17A):c.530A>G (p.Tyr177Cys)	ABHD17A (Y177C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321457	NM_001130111.2(ABHD17A):c.521G>A (p.Arg174His)	ABHD17A (R225H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521898	NM_001130111.2(ABHD17A):c.502G>A (p.Ala168Thr)	ABHD17A (A168T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321350	NM_001130111.2(ABHD17A):c.461C>T (p.Ser154Leu)	ABHD17A (S154L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130801	NM_001130111.2(ABHD17A):c.410G>A (p.Arg137His)	ABHD17A (R137H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130799	NM_001130111.2(ABHD17A):c.394A>G (p.Ile132Val)	ABHD17A (I183V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2476436	NM_001130111.2(ABHD17A):c.385A>G (p.Ser129Gly)	ABHD17A (S180G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492550	NM_001130111.2(ABHD17A):c.371T>C (p.Leu124Pro)	ABHD17A (L124P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491537	NM_001130111.2(ABHD17A):c.332+289C>A	ABHD17A (S145R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2349097	NM_001130111.2(ABHD17A):c.332+261C>T	ABHD17A (A136V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130786	NM_001130111.2(ABHD17A):c.332+244C>T	ABHD17A	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2242650	NM_001130111.2(ABHD17A):c.332+239C>G	ABHD17A (L129V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220068	NM_001130111.2(ABHD17A):c.332+230G>A	ABHD17A (V126M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130778	NM_001130111.2(ABHD17A):c.241C>G (p.Arg81Gly)	ABHD17A (R81G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130774	NM_001130111.2(ABHD17A):c.134C>T (p.Pro45Leu)	ABHD17A (P45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130767	NM_001130111.2(ABHD17A):c.100A>C (p.Thr34Pro)	ABHD17A (T34P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 22