TMEM158[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3178900	NM_015444.3(TMEM158):c.812C>T (p.Ala271Val)	TMEM158 (A271V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178899	NM_015444.3(TMEM158):c.811G>A (p.Ala271Thr)	TMEM158 (A271T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334385	NM_015444.3(TMEM158):c.650G>T (p.Arg217Leu)	TMEM158 (R217L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277133	NM_015444.3(TMEM158):c.641G>A (p.Arg214Gln)	TMEM158 (R214Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178897	NM_015444.3(TMEM158):c.553C>T (p.Pro185Ser)	TMEM158 (P185S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247402	NM_015444.3(TMEM158):c.542C>T (p.Ala181Val)	TMEM158 (A181V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385498	NM_015444.3(TMEM158):c.472C>T (p.Arg158Trp)	TMEM158 (R158W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358134	NM_015444.3(TMEM158):c.288C>G (p.Phe96Leu)	TMEM158 (F96L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512317	NM_015444.3(TMEM158):c.218C>G (p.Pro73Arg)	TMEM158 (P73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494688	NM_015444.3(TMEM158):c.172C>T (p.Pro58Ser)	TMEM158 (P58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510049	NM_015444.3(TMEM158):c.167C>G (p.Pro56Arg)	TMEM158 (P56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276655	NM_015444.3(TMEM158):c.158C>T (p.Ser53Leu)	TMEM158 (S53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405763	NM_015444.3(TMEM158):c.157T>G (p.Ser53Ala)	TMEM158 (S53A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318907	NM_015444.3(TMEM158):c.137T>C (p.Ile46Thr)	TMEM158 (I46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271104	NM_015444.3(TMEM158):c.134C>T (p.Pro45Leu)	TMEM158 (P45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273026	NM_015444.3(TMEM158):c.115G>C (p.Ala39Pro)	TMEM158 (A39P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595422	NM_015444.3(TMEM158):c.104C>T (p.Ala35Val)	TMEM158 (A35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564601	NM_015444.3(TMEM158):c.77C>G (p.Pro26Arg)	TMEM158 (P26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376376	NM_015444.3(TMEM158):c.71A>C (p.Asp24Ala)	TMEM158 (D24A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602861	NM_015444.3(TMEM158):c.4C>G (p.Leu2Val)	TMEM158 (L2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	ALS2CL, ARIH2 +71 more	Copy number loss	not provided	GPathogenic
Select item 814439	GRCh37/hg19 3p21.31(chr3:44444902-45413927)x1	CDCP1, CLEC3B +16 more	Copy number loss	not provided	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	AMT, APEH +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 26