CACTIN-AS1[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	ABCA7, ABHD17A +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	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 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	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 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
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 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 146498	GRCh38/hg38 19p13.3(chr19:3437996-4039217)x1	APBA3, ATCAY +71 more	Copy number loss	See cases	GPathogenic
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	ZFR2, ANKRD24 +142 more	Copy number loss	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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

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Items: 22