ERICH2-DT[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	ABCB11, ACVR1 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	KLHL23, KLHL41 +488 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 60252	GRCh38/hg38 2q31.1(chr2:170101430-171243609)x1	ERICH2, ERICH2-DT +27 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 58765	GRCh38/hg38 2q31.1(chr2:170444219-172050237)x1	LOC129935084, LOC129935085 +54 more	Copy number loss	See cases	GPathogenic
Select item 2398820	NM_001003845.3(SP5):c.301C>A (p.Leu101Met)	ERICH2-DT, SP5 (L101M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377765	NM_001003845.3(SP5):c.323C>T (p.Ala108Val)	SP5, ERICH2-DT (A108V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344123	NM_001003845.3(SP5):c.328G>C (p.Glu110Gln)	SP5, ERICH2-DT (E110Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604468	NM_001003845.3(SP5):c.334C>T (p.Pro112Ser)	ERICH2-DT, SP5 (P112S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225432	NM_001003845.3(SP5):c.404T>C (p.Met135Thr)	SP5, ERICH2-DT (M135T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479901	NM_001003845.3(SP5):c.520A>G (p.Thr174Ala)	ERICH2-DT, SP5 (T174A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620307	NM_001003845.3(SP5):c.574A>G (p.Ile192Val)	ERICH2-DT, SP5 (I192V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558563	NM_001003845.3(SP5):c.592G>C (p.Gly198Arg)	ERICH2-DT, SP5 (G198R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240795	NM_001003845.3(SP5):c.616G>C (p.Gly206Arg)	ERICH2-DT, SP5 (G206R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273830	NM_001003845.3(SP5):c.638G>T (p.Cys213Phe)	ERICH2-DT, SP5 (C213F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379555	NM_001003845.3(SP5):c.640G>C (p.Ala214Pro)	SP5, ERICH2-DT (A214P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242319	NM_001003845.3(SP5):c.647C>A (p.Ala216Asp)	SP5, ERICH2-DT (A216D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401021	NM_001003845.3(SP5):c.698C>G (p.Ala233Gly)	ERICH2-DT, SP5 (A233G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260375	NM_001003845.3(SP5):c.700G>C (p.Ala234Pro)	ERICH2-DT, SP5 (A234P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250350	NM_001003845.3(SP5):c.700G>A (p.Ala234Thr)	ERICH2-DT, SP5 (A234T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239128	NM_001003845.3(SP5):c.760A>G (p.Ile254Val)	SP5, ERICH2-DT (I254V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340935	NM_001003845.3(SP5):c.1090C>T (p.Arg364Cys)	ERICH2-DT, SP5 (R364C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266503	NM_001003845.3(SP5):c.1121A>G (p.His374Arg)	SP5, ERICH2-DT (H374R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315731	NM_001003845.3(SP5):c.1175G>T (p.Arg392Leu)	SP5, ERICH2-DT (R392L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 26