"GeneDx"[submitter] AND "NACC1"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 60270	GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3	CALR, DAND5 +67 more	Copy number gain	See cases	GUncertain significance
Select item 59113	GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3	CACNA1A, CALR +96 more	Copy number gain	See cases	GPathogenic
Select item 146026	GRCh38/hg38 19p13.13(chr19:13034666-13283686)x1	CACNA1A, IER2 +52 more	Copy number loss	See cases	GPathogenic
Select item 1305856	NM_052876.4(NACC1):c.29C>T (p.Pro10Leu)	NACC1 (P10L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1712884	NM_052876.4(NACC1):c.71G>A (p.Arg24Gln)	NACC1 (R24Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451782	NM_052876.4(NACC1):c.133C>T (p.Arg45Trp)	NACC1 (R45W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2095577	NM_052876.4(NACC1):c.134G>A (p.Arg45Gln)	NACC1 (R45Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722996	NM_052876.4(NACC1):c.313G>A (p.Gly105Ser)	NACC1 (G105S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700963	NM_052876.4(NACC1):c.385G>A (p.Asp129Asn)	NACC1 (D129N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363790	NM_052876.4(NACC1):c.529C>T (p.Gln177Ter)	NACC1 (Q177*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2579768	NM_052876.4(NACC1):c.542T>G (p.Val181Gly)	NACC1 (V181G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363978	NM_052876.4(NACC1):c.583G>A (p.Gly195Ser)	NACC1 (G195S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 674312	NM_052876.4(NACC1):c.623C>T (p.Thr208Met)	NACC1 (T208M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1697089	NM_052876.4(NACC1):c.754G>A (p.Val252Met)	NACC1 (V252M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574952	NM_052876.4(NACC1):c.843GGA[1] (p.Glu282del)	NACC1 (E282del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2582090	NM_052876.4(NACC1):c.848A>C (p.Asp283Ala)	NACC1 (D283A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 417784	NM_052876.4(NACC1):c.892C>T (p.Arg298Trp)	NACC1 (R298W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1992876	NM_052876.4(NACC1):c.991C>T (p.Arg331Ter)	NACC1 (R331*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2428976	NM_052876.4(NACC1):c.998G>A (p.Arg333His)	NACC1 (R333H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1695571	NM_052876.4(NACC1):c.1010G>A (p.Arg337Gln)	NACC1 (R337Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination +1 more	GConflicting classifications of pathogenicity
Select item 2580550	NM_052876.4(NACC1):c.1114G>T (p.Val372Leu)	NACC1 (V372L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579569	NM_052876.4(NACC1):c.1147C>T (p.Gln383Ter)	NACC1 (Q383*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3340994	NM_052876.4(NACC1):c.1201C>T (p.Arg401Trp)	NACC1 (R401W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1712897	NM_052876.4(NACC1):c.1226G>A (p.Arg409Gln)	NACC1 (R409Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707819	NM_052876.4(NACC1):c.1282C>T (p.Arg428Cys)	NACC1 (R428C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342879	NM_052876.4(NACC1):c.1310T>G (p.Leu437Arg)	NACC1 (L437R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253176	NM_052876.4(NACC1):c.1390T>G (p.Cys464Gly)	NACC1 (C464G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662329	NM_052876.4(NACC1):c.1390T>A (p.Cys464Ser)	NACC1 (C464S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580718	NM_052876.4(NACC1):c.1502C>A (p.Pro501Gln)	NACC1 (P501Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 31