SART3[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 149538	GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1	ABTB3, ASCL4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 3157881	NM_014706.4(SART3):c.2824G>A (p.Ala942Thr)	SART3 (A942T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2618034	NM_014706.4(SART3):c.2818G>C (p.Val940Leu)	SART3 (V940L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785423	NM_014706.4(SART3):c.2796C>T (p.Asn932=)	SART3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3157880	NM_014706.4(SART3):c.2786A>G (p.Gln929Arg)	SART3 (Q929R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157879	NM_014706.4(SART3):c.2717G>A (p.Arg906Lys)	SART3 (R906K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524778	NM_014706.4(SART3):c.2707T>C (p.Tyr903His)	SART3 (Y921H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157878	NM_014706.4(SART3):c.2549A>G (p.Asn850Ser)	SART3 (N850S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444505	NM_014706.4(SART3):c.2507G>A (p.Arg836Gln)	LOC126861630, SART3 (R836Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis	GLikely pathogenic
Select item 3157877	NM_014706.4(SART3):c.2504A>G (p.Asn835Ser)	LOC126861630, SART3 (N835S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295214	NM_014706.4(SART3):c.2435G>A (p.Cys812Tyr)	LOC126861630, SART3 (C812Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230841	NM_014706.4(SART3):c.2376C>G (p.Phe792Leu)	LOC126861630, SART3 (F792L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444507	NM_014706.4(SART3):c.2299C>T (p.Arg767Trp)	SART3 (R767W +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis	GLikely pathogenic
Select item 3157876	NM_014706.4(SART3):c.2282A>G (p.Gln761Arg)	SART3 (Q761R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349883	NM_014706.4(SART3):c.2212A>G (p.Ile738Val)	SART3 (I738V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444511	NM_014706.4(SART3):c.2153C>T (p.Pro718Leu)	SART3 (P718L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis	GLikely pathogenic
Select item 788887	NM_014706.4(SART3):c.2073C>T (p.Asp691=)	SART3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2317508	NM_014706.4(SART3):c.2036C>T (p.Ser679Leu)	SART3 (S679L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306435	NM_014706.4(SART3):c.1978G>C (p.Val660Leu)	SART3 (V660L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2313262	NM_014706.4(SART3):c.1918C>A (p.Gln640Lys)	SART3 (Q640K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 849	NM_014706.4(SART3):c.1771G>A (p.Val591Met)	SART3 (V591M)	Single nucleotide variant (missense variant)	Porokeratosis 3, disseminated superficial actinic type	GUncertain significance
Select item 2225562	NM_014706.4(SART3):c.1639G>A (p.Glu547Lys)	SART3 (E547K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326583	NM_014706.4(SART3):c.1561C>T (p.His521Tyr)	SART3 (H521Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444512	NM_014706.4(SART3):c.1555A>G (p.Arg519Gly)	SART3 (R519G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis	GLikely pathogenic
Select item 2444509	NM_014706.4(SART3):c.1477C>T (p.Arg493Trp)	SART3 (R493W +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis	GLikely pathogenic
Select item 2388881	NM_014706.4(SART3):c.1402G>A (p.Gly468Ser)	SART3 (G486S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292109	NM_014706.4(SART3):c.1398G>C (p.Glu466Asp)	SART3 (E466D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241571	NM_014706.4(SART3):c.1394A>G (p.Asn465Ser)	SART3 (N465S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2359227	NM_014706.4(SART3):c.1363T>C (p.Tyr455His)	SART3 (Y455H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157875	NM_014706.4(SART3):c.1351C>T (p.Arg451Cys)	SART3 (R469C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730327	NM_014706.4(SART3):c.1310-5G>A	SART3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3157874	NM_014706.4(SART3):c.1277A>T (p.Asp426Val)	SART3 (D426V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269512	NM_014706.4(SART3):c.1210G>A (p.Glu404Lys)	SART3 (E404K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768574	NM_014706.4(SART3):c.1110C>T (p.Arg370=)	SART3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3157872	NM_014706.4(SART3):c.1045C>T (p.Arg349Cys)	SART3 (R367C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157882	NM_014706.4(SART3):c.831A>G (p.Ile277Met)	SART3 (I277M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444508	NM_014706.4(SART3):c.757C>T (p.Arg253Ter)	SART3 (R253* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis	GLikely pathogenic
Select item 2411906	NM_014706.4(SART3):c.715G>T (p.Val239Leu)	SART3 (V239L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444510	NM_014706.4(SART3):c.646T>C (p.Ser216Pro)	SART3 (S216P)	Single nucleotide variant (missense variant)	Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis	GLikely pathogenic
Select item 2209269	NM_014706.4(SART3):c.644C>T (p.Ser215Leu)	SART3 (S215L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444506	NM_014706.4(SART3):c.631G>A (p.Glu211Lys)	SART3 (E211K)	Single nucleotide variant (missense variant)	Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis	GLikely pathogenic
Select item 2497702	NM_014706.4(SART3):c.625G>A (p.Val209Met)	SART3 (V209M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2514253	NM_014706.4(SART3):c.619C>T (p.Arg207Cys)	SART3 (R207C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404732	NM_014706.4(SART3):c.616G>A (p.Val206Ile)	SART3 (V206I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709181	NM_014706.4(SART3):c.544+10C>T	SART3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2376070	NM_014706.4(SART3):c.323A>G (p.Asn108Ser)	SART3 (N108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511440	NM_014706.4(SART3):c.272A>C (p.Glu91Ala)	SART3 (E91A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467442	NM_014706.4(SART3):c.174G>T (p.Gln58His)	SART3 (Q58H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404014	NM_014706.4(SART3):c.119C>T (p.Ser40Leu)	SART3 (S40L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264787	NM_014706.4(SART3):c.95C>G (p.Ala32Gly)	SART3 (A32G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331361	NM_014706.4(SART3):c.94G>A (p.Ala32Thr)	SART3 (A32T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460642	NM_014706.4(SART3):c.11C>T (p.Ala4Val)	SART3 (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570854	GRCh37/hg19 12q23.3-24.11(chr12:108917234-109052695)x3	CORO1C, ISCU +3 more	Copy number gain	not provided	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 988907	GRCh37/hg19 12q23.3-24.11(chr12:107197584-109830564)x1	ABTB3, ACACB +23 more	Copy number loss	not provided	GUncertain significance
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +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: 63