ClinVar for Gene (Select 58509) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262893	NM_001080543.2(CACTIN):c.691G>A (p.Glu231Lys)	CACTIN (E231K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262892	NM_001080543.2(CACTIN):c.365G>A (p.Gly122Glu)	CACTIN (G122E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262891	NM_001080543.2(CACTIN):c.1038G>C (p.Glu346Asp)	CACTIN (E346D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262890	NM_001080543.2(CACTIN):c.1264G>A (p.Glu422Lys)	CACTIN (E422K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248515	NC_000019.9:g.(?_2430909)_(4171966_?)del	APBA3, ATCAY +42 more	Deletion	RASopathy	GUncertain significance
Select item 3136557	NM_001080543.2(CACTIN):c.961G>A (p.Asp321Asn)	CACTIN (D321N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136556	NM_001080543.2(CACTIN):c.695G>A (p.Arg232Gln)	CACTIN (R232Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136555	NM_001080543.2(CACTIN):c.392C>T (p.Ala131Val)	CACTIN (A131V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136554	NM_001080543.2(CACTIN):c.356C>T (p.Ala119Val)	CACTIN (A119V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136553	NM_001080543.2(CACTIN):c.282G>T (p.Gln94His)	CACTIN (Q94H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136552	NM_001080543.2(CACTIN):c.227G>A (p.Arg76Gln)	CACTIN (R76Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136551	NM_001080543.2(CACTIN):c.2165A>G (p.Lys722Arg)	CACTIN, CACTIN-AS1 (K722R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3136549	NM_001080543.2(CACTIN):c.1737T>A (p.Asp579Glu)	CACTIN, CACTIN-AS1 (D579E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3136548	NM_001080543.2(CACTIN):c.1508C>G (p.Pro503Arg)	CACTIN, CACTIN-AS1 (P503R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3136547	NM_001080543.2(CACTIN):c.1411G>C (p.Glu471Gln)	CACTIN, CACTIN-AS1 (E471Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2623758	NM_001080543.2(CACTIN):c.1424A>G (p.Glu475Gly)	CACTIN, CACTIN-AS1 (E475G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2619028	NM_001080543.2(CACTIN):c.404G>A (p.Ser135Asn)	CACTIN (S135N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597188	NM_001080543.2(CACTIN):c.1832A>G (p.Lys611Arg)	CACTIN, CACTIN-AS1 (K611R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592707	NM_001080543.2(CACTIN):c.2133C>G (p.His711Gln)	CACTIN, CACTIN-AS1 (H711Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2561568	NM_001080543.2(CACTIN):c.448C>T (p.Arg150Trp)	CACTIN (R150W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492588	NM_001080543.2(CACTIN):c.313C>T (p.Arg105Cys)	CACTIN (R105C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462427	NM_001080543.2(CACTIN):c.305G>A (p.Arg102Gln)	CACTIN (R102Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2406665	NM_001080543.2(CACTIN):c.1463A>T (p.Gln488Leu)	CACTIN, CACTIN-AS1 (Q488L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2394507	NM_001080543.2(CACTIN):c.382C>T (p.Arg128Trp)	CACTIN (R128W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389755	NM_001080543.2(CACTIN):c.949G>A (p.Ala317Thr)	CACTIN (A317T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384485	NM_001080543.2(CACTIN):c.1550T>C (p.Val517Ala)	CACTIN, CACTIN-AS1 (V517A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2378535	NM_001080543.2(CACTIN):c.388G>T (p.Ala130Ser)	CACTIN (A130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369514	NM_001080543.2(CACTIN):c.1831A>C (p.Lys611Gln)	CACTIN, CACTIN-AS1 (K611Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324206	NM_001080543.2(CACTIN):c.417C>G (p.Ser139Arg)	CACTIN (S139R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276616	NM_001080543.2(CACTIN):c.316G>A (p.Ala106Thr)	CACTIN (A106T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2276502	NM_001080543.2(CACTIN):c.2197C>T (p.Arg733Cys)	CACTIN, CACTIN-AS1 (R733C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2235052	NM_001080543.2(CACTIN):c.118C>T (p.Arg40Trp)	CACTIN (R40W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218323	NM_001080543.2(CACTIN):c.614A>G (p.Asn205Ser)	CACTIN (N205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340547	GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1	ANKRD24, APBA3 +46 more	Copy number loss	not provided	GPathogenic
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 686923	GRCh37/hg19 19p13.3(chr19:3132909-3907470)x3	APBA3, ATCAY +20 more	Copy number gain	not provided	GUncertain significance
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 635915	Single allele	ATCAY, CACTIN +50 more	Deletion	Internal malformations	GUncertain significance
Select item 625734	GRCh37/hg19 19p13.3(chr19:3076808-4796782)	ANKRD24, APBA3 +48 more	Copy number loss	not provided	GPathogenic
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 146498	GRCh38/hg38 19p13.3(chr19:3437996-4039217)x1	APBA3, ATCAY +71 more	Copy number loss	See cases	GPathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 60233	GRCh38/hg38 19p13.3(chr19:3080621-3730716)x3	CACTIN, CACTIN-AS1 +79 more	Copy number gain	See cases	GUncertain significance
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	PIP5K1C, PLIN4 +142 more	Copy number loss	See cases	GPathogenic
Select item 60070	GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1	APBA3, ATCAY +121 more	Copy number loss	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 57