NACC1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
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 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 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 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 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 149139	GRCh38/hg38 19p13.13(chr19:12974394-13408586)x1	CACNA1A, DAND5 +58 more	Copy number loss	See cases	GPathogenic
Select item 147360	GRCh38/hg38 19p13.13(chr19:12978943-13236134)x3	CACNA1A, IER2 +50 more	Copy number gain	See cases	GUncertain significance
Select item 146026	GRCh38/hg38 19p13.13(chr19:13034666-13283686)x1	CACNA1A, IER2 +52 more	Copy number loss	See cases	GPathogenic
Select item 2649370	NM_052876.4(NACC1):c.-8-7C>T	NACC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1564135	NM_052876.4(NACC1):c.12A>G (p.Thr4=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1386411	NM_052876.4(NACC1):c.21G>A (p.Met7Ile)	NACC1 (M7I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 752867	NM_052876.4(NACC1):c.30G>A (p.Pro10=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966629	NM_052876.4(NACC1):c.36C>T (p.Phe12=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978443	NM_052876.4(NACC1):c.44G>A (p.Ser15Asn)	NACC1 (S15N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714640	NM_052876.4(NACC1):c.54G>T (p.Glu18Asp)	NACC1 (E18D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1558239	NM_052876.4(NACC1):c.63T>C (p.Asn21=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1580809	NM_052876.4(NACC1):c.78G>A (p.Gln26=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991931	NM_052876.4(NACC1):c.84G>A (p.Leu28=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1400418	NM_052876.4(NACC1):c.86A>G (p.Tyr29Cys)	NACC1 (Y29C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787826	NM_052876.4(NACC1):c.87C>T (p.Tyr29=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1586334	NM_052876.4(NACC1):c.93C>T (p.Asp31=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1930849	NM_052876.4(NACC1):c.94G>A (p.Val32Met)	NACC1 (V32M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1492495	NM_052876.4(NACC1):c.99_101del (p.Val36del)	NACC1 (V36del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1666615	NM_052876.4(NACC1):c.102G>A (p.Val34=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1393927	NM_052876.4(NACC1):c.119C>T (p.Ala40Val)	NACC1 (A40V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1389649	NM_052876.4(NACC1):c.125A>G (p.Lys42Arg)	NACC1 (K42R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1549806	NM_052876.4(NACC1):c.132C>T (p.His44=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2106820	NM_052876.4(NACC1):c.133C>A (p.Arg45=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2696111	NM_052876.4(NACC1):c.136G>C (p.Ala46Pro)	NACC1 (A46P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1384103	NM_052876.4(NACC1):c.142_198del (p.Leu48_Val66del)	NACC1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2189257	NM_052876.4(NACC1):c.138C>T (p.Ala46=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912205	NM_052876.4(NACC1):c.147T>C (p.Ala49=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026039	NM_052876.4(NACC1):c.156C>T (p.Ser52=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1544921	NM_052876.4(NACC1):c.165C>T (p.Phe55=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1552983	NM_052876.4(NACC1):c.183C>T (p.Asn61=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2420696	NM_052876.4(NACC1):c.188G>A (p.Arg63His)	NACC1 (R63H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1552590	NM_052876.4(NACC1):c.192C>T (p.Ser64=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1594429	NM_052876.4(NACC1):c.195C>T (p.Ala65=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1474784	NM_052876.4(NACC1):c.196G>A (p.Val66Met)	NACC1 (V66M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2017141	NM_052876.4(NACC1):c.201G>A (p.Val67=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991932	NM_052876.4(NACC1):c.204G>A (p.Glu68=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713660	NM_052876.4(NACC1):c.207G>A (p.Leu69=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1580321	NM_052876.4(NACC1):c.210G>A (p.Pro70=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1599783	NM_052876.4(NACC1):c.213G>A (p.Ala71=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2898368	NM_052876.4(NACC1):c.216T>C (p.Ala72=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1467874	NM_052876.4(NACC1):c.217G>C (p.Val73Leu)	NACC1 (V73L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181186	NM_052876.4(NACC1):c.241A>G (p.Ile81Val)	NACC1 (I81V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856210	NM_052876.4(NACC1):c.243C>T (p.Ile81=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1674735	NM_052876.4(NACC1):c.243C>A (p.Ile81=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1581903	NM_052876.4(NACC1):c.246C>T (p.Leu82=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1572296	NM_052876.4(NACC1):c.260C>T (p.Thr87Met)	NACC1 (T87M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1940304	NM_052876.4(NACC1):c.261G>C (p.Thr87=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1644020	NM_052876.4(NACC1):c.261G>A (p.Thr87=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1508862	NM_052876.4(NACC1):c.266G>A (p.Arg89Gln)	NACC1 (R89Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3349641	NM_052876.4(NACC1):c.272G>T (p.Ser91Ile)	NACC1 (S91I)	Single nucleotide variant (missense variant)	NACC1-related disorder	GUncertain significance
Select item 1554348	NM_052876.4(NACC1):c.279C>T (p.Asn93=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011299	NM_052876.4(NACC1):c.280G>C (p.Val94Leu)	NACC1 (V94L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2189258	NM_052876.4(NACC1):c.280G>A (p.Val94Met)	NACC1 (V94M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1613702	NM_052876.4(NACC1):c.282G>C (p.Val94=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 771034	NM_052876.4(NACC1):c.282G>T (p.Val94=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725570	NM_052876.4(NACC1):c.282G>A (p.Val94=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1523711	NM_052876.4(NACC1):c.285C>T (p.Gly95=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2160823	NM_052876.4(NACC1):c.288C>T (p.Asp96=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3033885	NM_052876.4(NACC1):c.306C>G (p.Tyr102Ter)	NACC1 (Y102*)	Single nucleotide variant (nonsense)	NACC1-related disorder	GUncertain significance
Select item 727268	NM_052876.4(NACC1):c.309G>A (p.Thr103=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1662979	NM_052876.4(NACC1):c.319C>T (p.Leu107=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1542794	NM_052876.4(NACC1):c.324G>A (p.Gln108=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1528027	NM_052876.4(NACC1):c.336C>T (p.Ile112=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2161336	NM_052876.4(NACC1):c.342G>A (p.Glu114=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3029286	NM_052876.4(NACC1):c.346G>T (p.Gly116Cys)	NACC1 (G116C)	Single nucleotide variant (missense variant)	NACC1-related disorder	GUncertain significance
Select item 740703	NM_052876.4(NACC1):c.351C>T (p.Thr117=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1603324	NM_052876.4(NACC1):c.357C>T (p.Phe119=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 521628	NM_052876.4(NACC1):c.365A>G (p.Lys122Arg)	NACC1 (K122R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2096166	NM_052876.4(NACC1):c.374C>T (p.Ser125Phe)	NACC1 (S125F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955328	NM_052876.4(NACC1):c.378G>A (p.Pro126=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1421328	NM_052876.4(NACC1):c.384C>T (p.Cys128=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1530681	NM_052876.4(NACC1):c.390C>G (p.Ser130=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1425360	NM_052876.4(NACC1):c.393G>A (p.Gln131=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1581515	NM_052876.4(NACC1):c.399G>A (p.Leu133=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1358278	NM_052876.4(NACC1):c.401A>G (p.His134Arg)	NACC1 (H134R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1654409	NM_052876.4(NACC1):c.402T>C (p.His134=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1625141	NM_052876.4(NACC1):c.404C>T (p.Ala135Val)	NACC1 (A135V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1949065	NM_052876.4(NACC1):c.405G>A (p.Ala135=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1952807	NM_052876.4(NACC1):c.419C>T (p.Ser140Leu)	NACC1 (S140L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1639129	NM_052876.4(NACC1):c.420G>A (p.Ser140=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972859	NM_052876.4(NACC1):c.429C>T (p.Pro143=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1510693	NM_052876.4(NACC1):c.430C>T (p.Gln144Ter)	NACC1 (Q144*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2157240	NM_052876.4(NACC1):c.432G>A (p.Gln144=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1586189	NM_052876.4(NACC1):c.438C>T (p.Pro146=)	NACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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