ACSS2[gene] and "single gene"[properties] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2372022	NM_018677.4(ACSS2):c.241C>T (p.Arg81Trp)	ACSS2 (R81W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399709	NM_018677.4(ACSS2):c.242G>A (p.Arg81Gln)	ACSS2 (R81Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3140993	NM_018677.4(ACSS2):c.245A>T (p.Tyr82Phe)	ACSS2 (Y82F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140997	NM_018677.4(ACSS2):c.280G>A (p.Glu94Lys)	ACSS2 (E94K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049519	NM_018677.4(ACSS2):c.411A>G (p.Thr137=)	ACSS2	Single nucleotide variant (synonymous variant)	ACSS2-related disorder	GLikely benign
Select item 2333396	NM_018677.4(ACSS2):c.445A>G (p.Ser149Gly)	ACSS2 (S54G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399059	NM_018677.4(ACSS2):c.501G>A (p.Met167Ile)	ACSS2 (M167I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141008	NM_018677.4(ACSS2):c.542C>T (p.Ala181Val)	ACSS2 (A181V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463780	NM_018677.4(ACSS2):c.598T>C (p.Cys200Arg)	ACSS2 (C200R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366479	NM_018677.4(ACSS2):c.691G>C (p.Asp231His)	ACSS2 (D136H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043533	NM_018677.4(ACSS2):c.756C>T (p.His252=)	ACSS2	Single nucleotide variant (synonymous variant)	ACSS2-related disorder	GBenign
Select item 3141021	NM_018677.4(ACSS2):c.764G>A (p.Arg255Gln)	ACSS2 (R255Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331113	NM_018677.4(ACSS2):c.805C>A (p.Pro269Thr)	ACSS2 (P269T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594712	NM_018677.4(ACSS2):c.808A>G (p.Ile270Val)	ACSS2 (I175V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2311938	NM_018677.4(ACSS2):c.834+791A>T	ACSS2 (K282I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780604	NM_018677.4(ACSS2):c.898T>A (p.Cys300Ser)	ACSS2 (C205S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3039685	NM_018677.4(ACSS2):c.921C>T (p.Ala307=)	ACSS2	Single nucleotide variant (synonymous variant)	ACSS2-related disorder	GLikely benign
Select item 2204557	NM_018677.4(ACSS2):c.922G>A (p.Glu308Lys)	ACSS2 (E213K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055005	NM_018677.4(ACSS2):c.927C>T (p.Asp309=)	ACSS2	Single nucleotide variant (synonymous variant)	ACSS2-related disorder	GLikely benign
Select item 2038439	NM_018677.4(ACSS2):c.972+5GT[23]	ACSS2	Microsatellite (intron variant)	not provided	GBenign
Select item 2019383	NM_018677.4(ACSS2):c.972+5GT[24]	ACSS2	Microsatellite (intron variant)	not provided	GBenign
Select item 3045466	NM_018677.4(ACSS2):c.989T>C (p.Val330Ala)	ACSS2 (V235A +2 more)	Single nucleotide variant (missense variant)	ACSS2-related disorder	GBenign
Select item 3043271	NM_018677.4(ACSS2):c.1026G>A (p.Lys342=)	ACSS2	Single nucleotide variant (synonymous variant)	ACSS2-related disorder	GLikely benign
Select item 3140918	NM_018677.4(ACSS2):c.1088C>T (p.Thr363Ile)	ACSS2 (T376I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140925	NM_018677.4(ACSS2):c.1102G>A (p.Val368Ile)	ACSS2 (V381I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140971	NM_018677.4(ACSS2):c.1658G>C (p.Gly553Ala)	ACSS2 (G458A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738865	NM_018677.4(ACSS2):c.1758A>G (p.Ser586=)	ACSS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3140972	NM_018677.4(ACSS2):c.1774G>A (p.Glu592Lys)	ACSS2 (E605K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473138	NM_018677.4(ACSS2):c.1822G>A (p.Gly608Ser)	ACSS2 (G608S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623897	NM_018677.4(ACSS2):c.1858G>A (p.Gly620Ser)	ACSS2 (G633S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042629	NM_018677.4(ACSS2):c.1884C>T (p.Thr628=)	ACSS2	Single nucleotide variant (synonymous variant)	ACSS2-related disorder	GLikely benign
Select item 3140982	NM_018677.4(ACSS2):c.1925T>C (p.Ile642Thr)	ACSS2 (I655T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140986	NM_018677.4(ACSS2):c.2081G>A (p.Ser694Asn)	ACSS2 (S599N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 33