7629[HGNC] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 2288079	NM_001365896.1(NACA):c.5879G>A (p.Arg1960Gln)	NACA (R97Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254184	NM_001365896.1(NACA):c.5632A>G (p.Lys1878Glu)	NACA (K1878E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377389	NM_001365896.1(NACA):c.5572G>A (p.Val1858Ile)	NACA (V705I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546498	NM_001365896.1(NACA):c.5557G>A (p.Val1853Met)	NACA (V1853M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310400	NM_001365896.1(NACA):c.5537C>T (p.Pro1846Leu)	NACA (P1846L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271135	NM_001365896.1(NACA):c.5527C>G (p.Leu1843Val)	NACA (L690V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2643101	NM_001365896.1(NACA):c.5484C>G (p.Pro1828=)	NACA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2549987	NM_001365896.1(NACA):c.5404C>T (p.Leu1802Phe)	NACA (L1802F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339489	NM_001365896.1(NACA):c.5348C>G (p.Pro1783Arg)	NACA (P1783R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 713130	NM_001365896.1(NACA):c.5314C>T (p.Pro1772Ser)	NACA (P1772S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2643102	NM_001365896.1(NACA):c.3786G>A (p.Gly1262=)	NACA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2643103	NM_001365896.1(NACA):c.3609C>T (p.Pro1203=)	NACA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2643104	NM_001365896.1(NACA):c.3450A>T (p.Thr1150=)	NACA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025404	NM_001365896.1(NACA):c.3270A>C (p.Pro1090=)	NACA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025862	NM_001365896.1(NACA):c.2892A>G (p.Thr964=)	NACA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025240	NM_001365896.1(NACA):c.2859C>T (p.Gly953=)	NACA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2525379	NM_001365896.1(NACA):c.1963C>T (p.Pro655Ser)	NACA (P612S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480959	NM_001365896.1(NACA):c.1742A>G (p.Glu581Gly)	NACA (E581G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526733	NM_001365896.1(NACA):c.1655C>T (p.Thr552Ile)	NACA (T552I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520309	NM_001365896.1(NACA):c.1513G>A (p.Val505Ile)	NACA (V505I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541403	NM_001365896.1(NACA):c.1510C>T (p.Pro504Ser)	NACA (P504S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 768556	NM_001365896.1(NACA):c.1469C>G (p.Pro490Arg)	NACA (P490R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2526672	NM_001365896.1(NACA):c.1337C>A (p.Pro446His)	NACA (P446H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1260078	NM_001365896.1(NACA):c.1214T>C (p.Phe405Ser)	NACA (F405S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2544985	NM_001365896.1(NACA):c.1126G>C (p.Val376Leu)	NACA (V376L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550546	NM_001365896.1(NACA):c.1115C>T (p.Ala372Val)	NACA (A372V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383115	NM_001365896.1(NACA):c.1111G>A (p.Val371Met)	NACA (V371M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328536	NM_001365896.1(NACA):c.1102C>G (p.Pro368Ala)	NACA (P368A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483716	NM_001365896.1(NACA):c.1049A>G (p.Tyr350Cys)	NACA (Y350C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292508	NM_001365896.1(NACA):c.1042G>T (p.Ala348Ser)	NACA (A348S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277536	NM_001365896.1(NACA):c.1028A>G (p.His343Arg)	NACA (H343R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300831	NM_001365896.1(NACA):c.964C>G (p.Leu322Val)	NACA (L322V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365354	NM_001365896.1(NACA):c.947C>A (p.Ser316Tyr)	NACA (S316Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269865	NM_001365896.1(NACA):c.895C>A (p.Pro299Thr)	NACA (P299T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392783	NM_001365896.1(NACA):c.878C>T (p.Ala293Val)	NACA (A293V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 731364	NM_001365896.1(NACA):c.726T>C (p.Ala242=)	NACA	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2401402	NM_001365896.1(NACA):c.619T>C (p.Cys207Arg)	LOC130008102, NACA (C207R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293650	NM_001365896.1(NACA):c.425T>G (p.Leu142Arg)	NACA (L142R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258084	NM_001365896.1(NACA):c.383A>G (p.Lys128Arg)	NACA (K128R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365398	NM_001365896.1(NACA):c.370G>A (p.Ala124Thr)	NACA (A124T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2299619	NM_001365896.1(NACA):c.329C>G (p.Pro110Arg)	NACA (P110R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262355	NM_001365896.1(NACA):c.311C>T (p.Pro104Leu)	NACA (P104L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613838	NM_001365896.1(NACA):c.146G>C (p.Cys49Ser)	NACA (C49S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388234	NM_001365896.1(NACA):c.139C>T (p.Pro47Ser)	NACA (P47S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378471	NM_001365896.1(NACA):c.82A>C (p.Met28Leu)	NACA (M28L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518611	NM_001365896.1(NACA):c.80C>T (p.Pro27Leu)	NACA (P27L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404189	NM_001365896.1(NACA):c.23C>T (p.Thr8Ile)	NACA (T8I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 54