TMEM115[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 3178444	NM_007024.5(TMEM115):c.1046C>T (p.Pro349Leu)	CYB561D2, LOC127898564 +1 more (P349L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567207	NM_007024.5(TMEM115):c.1043C>T (p.Pro348Leu)	LOC127898564, TMEM115 (P348L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285918	NM_007024.5(TMEM115):c.1018A>T (p.Ser340Cys)	LOC127898564, TMEM115 (S340C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389737	NM_007024.5(TMEM115):c.983C>T (p.Pro328Leu)	LOC127898564, TMEM115 (P328L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326654	NM_007024.5(TMEM115):c.841G>A (p.Glu281Lys)	CYB561D2, LOC127898564 +1 more (E281K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178447	NM_007024.5(TMEM115):c.735C>G (p.Ser245Arg)	CYB561D2, LOC127898564 +1 more (S245R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321298	NM_007024.5(TMEM115):c.724T>G (p.Leu242Val)	LOC127898564, TMEM115 (L242V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178446	NM_007024.5(TMEM115):c.668C>G (p.Ala223Gly)	CYB561D2, LOC127898564 +1 more (A223G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410583	NM_007024.5(TMEM115):c.596T>C (p.Leu199Pro)	LOC127898564, TMEM115 (L199P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554818	NM_007024.5(TMEM115):c.542G>A (p.Arg181Gln)	LOC127898564, TMEM115 (R181Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406997	NM_007024.5(TMEM115):c.496G>A (p.Val166Ile)	LOC127898564, TMEM115 (V166I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544020	NM_007024.5(TMEM115):c.466T>C (p.Cys156Arg)	LOC127898564, TMEM115 (C156R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495808	NM_007024.5(TMEM115):c.227C>T (p.Ala76Val)	LOC127898564, TMEM115 (A76V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593043	NM_007024.5(TMEM115):c.83C>T (p.Ala28Val)	LOC127898564, TMEM115 (A28V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426218	NC_000003.11:g.(?_49866536)_(50540854_?)dup	CACNA2D2, CAMKV +23 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 2425465	NC_000003.11:g.(?_50378802)_(50471880_?)del	CACNA2D2, CYB561D2 +3 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1808347	GRCh37/hg19 3p21.31(chr3:50364292-50492932)x1	CACNA2D2, CYB561D2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1456135	NC_000003.11:g.(?_49547968)_(50685477_?)del	AMIGO3, APEH +38 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	AMIGO3, AMT +64 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 221434	GRCh37/hg19 3p21.31(chr3:50273827-50403519)x3	CACNA2D2, CYB561D2 +13 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 25