TMEM246-AS1[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	LOC130002043, LOC130002044 +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	LOC126860637, LOC126860638 +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 2592407	NM_032342.3(PGAP4):c.1060G>C (p.Val354Leu)	PGAP4, TMEM246-AS1 (V354L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480560	NM_032342.3(PGAP4):c.1028C>T (p.Ala343Val)	PGAP4, TMEM246-AS1 (A343V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482357	NM_032342.3(PGAP4):c.949C>T (p.Arg317Trp)	PGAP4, TMEM246-AS1 (R317W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483585	NM_032342.3(PGAP4):c.466A>C (p.Lys156Gln)	PGAP4, TMEM246-AS1 (K156Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594983	NM_032342.3(PGAP4):c.347A>G (p.His116Arg)	PGAP4, TMEM246-AS1 (H116R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454815	NM_032342.3(PGAP4):c.134G>A (p.Arg45Gln)	PGAP4, TMEM246-AS1 (R45Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521094	NM_032342.3(PGAP4):c.38G>A (p.Arg13Gln)	PGAP4, TMEM246-AS1 (R13Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614185	NM_032342.3(PGAP4):c.37C>G (p.Arg13Gly)	PGAP4, TMEM246-AS1 (R13G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 25