"GeneDx"[submitter] AND "ASCC3"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58439	GRCh38/hg38 6q16.1-16.3(chr6:97853776-102580597)x1	ASCC3, CCNC +68 more	Copy number loss	See cases	GPathogenic
Select item 58440	GRCh38/hg38 6q16.1-16.3(chr6:98668529-101266950)x1	ASCC3, CCNC +53 more	Copy number loss	See cases	GPathogenic
Select item 382492	NM_006828.4(ASCC3):c.6090A>C (p.Leu2030Phe)	ASCC3 (L2030F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663737	NM_006828.4(ASCC3):c.5563dup (p.Tyr1855fs)	ASCC3 (Y1855fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2662446	NM_006828.4(ASCC3):c.5029G>A (p.Asp1677Asn)	ASCC3 (D1677N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343296	NM_006828.4(ASCC3):c.4672G>A (p.Val1558Ile)	ASCC3 (V1558I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365805	NM_006828.4(ASCC3):c.4641G>C (p.Gln1547His)	ASCC3 (Q1547H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372150	NM_006828.4(ASCC3):c.4345A>G (p.Ile1449Val)	ASCC3 (I1449V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580575	NM_006828.4(ASCC3):c.4280C>T (p.Thr1427Met)	ASCC3 (T1427M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800734	NM_006828.4(ASCC3):c.4055_4056del (p.Gly1352fs)	ASCC3 (G1352fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3364166	NM_006828.4(ASCC3):c.3878C>T (p.Pro1293Leu)	ASCC3 (P1293L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343666	NM_006828.4(ASCC3):c.3760G>T (p.Val1254Leu)	ASCC3 (V1254L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422281	NM_006828.4(ASCC3):c.3434del (p.Lys1145fs)	ASCC3 (K1145fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3378108	NM_006828.4(ASCC3):c.3370G>A (p.Ala1124Thr)	ASCC3 (A1124T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443680	NM_006828.4(ASCC3):c.3023A>T (p.Glu1008Val)	ASCC3 (E1008V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1268046	NM_006828.4(ASCC3):c.2824-18A>G	ASCC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3378012	NM_006828.4(ASCC3):c.2738C>G (p.Ala913Gly)	ASCC3 (A913G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2356789	NM_006828.4(ASCC3):c.2692C>G (p.Leu898Val)	ASCC3 (L898V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3370687	NM_006828.4(ASCC3):c.2167C>G (p.His723Asp)	ASCC3 (H723D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376077	NM_006828.4(ASCC3):c.2024G>A (p.Arg675His)	ASCC3 (R675H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443441	NM_006828.4(ASCC3):c.1888C>T (p.Arg630Cys)	ASCC3 (R630C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365511	NM_006828.4(ASCC3):c.1761dup (p.Trp588fs)	ASCC3 (W588fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 448985	NM_006828.4(ASCC3):c.1596+1G>T	ASCC3	Single nucleotide variant (splice donor variant)	not provided +1 more	GUncertain significance
Select item 3366139	NM_006828.4(ASCC3):c.1490T>C (p.Ile497Thr)	ASCC3 (I497T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369778	NM_006828.4(ASCC3):c.1402C>T (p.Gln468Ter)	ASCC3 (Q468*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 418019	NM_006828.4(ASCC3):c.1396-3del	ASCC3	Deletion (intron variant)	not specified	GBenign
Select item 3130269	NM_006828.4(ASCC3):c.874G>A (p.Asp292Asn)	ASCC3 (D292N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1806744	NM_006828.4(ASCC3):c.713T>C (p.Met238Thr)	ASCC3 (M238T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361579	NM_006828.4(ASCC3):c.4993A>G (p.Thr1665Ala)	ASCC3 (T1665A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361040	NM_006828.4(ASCC3):c.5200C>T (p.His1734Tyr)	ASCC3 (H1734Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360000	NM_006828.4(ASCC3):c.6559C>T (p.Gln2187Ter)	ASCC3 (Q2187*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3359630	NM_006828.4(ASCC3):c.5267G>T (p.Trp1756Leu)	ASCC3 (W1756L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359314	NM_006828.4(ASCC3):c.3223C>G (p.Leu1075Val)	ASCC3 (L1075V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359313	NM_006828.4(ASCC3):c.6316C>T (p.Arg2106Ter)	ASCC3 (R2106*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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Items: 34