ECH1[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 2315657	NM_001398.3(ECH1):c.977C>T (p.Ser326Phe)	ECH1 (S326F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274406	NM_001398.3(ECH1):c.916G>A (p.Asp306Asn)	ECH1 (D306N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593823	NM_001398.3(ECH1):c.887C>T (p.Ser296Phe)	ECH1 (S296F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 559110	NM_001398.3(ECH1):c.850G>A (p.Asp284Asn)	ECH1, LOC129391108 (D284N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2210939	NM_001398.3(ECH1):c.779T>C (p.Leu260Pro)	ECH1 (L260P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363189	NM_001398.3(ECH1):c.775G>A (p.Ala259Thr)	ECH1 (A259T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274405	NM_001398.3(ECH1):c.736G>A (p.Val246Met)	ECH1 (V246M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274407	NM_001398.3(ECH1):c.710C>T (p.Ala237Val)	ECH1 (A237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490937	NM_001398.3(ECH1):c.696G>C (p.Met232Ile)	ECH1 (M232I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296248	NM_001398.3(ECH1):c.688C>T (p.Arg230Cys)	ECH1 (R230C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 559111	NM_001398.3(ECH1):c.649G>A (p.Gly217Arg)	ECH1 (G217R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3086936	NM_001398.3(ECH1):c.469G>A (p.Glu157Lys)	ECH1 (E157K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214762	NM_001398.3(ECH1):c.463G>A (p.Val155Ile)	ECH1 (V155I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248132	NM_001398.3(ECH1):c.433A>T (p.Ile145Phe)	ECH1 (I145F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243256	NM_001398.3(ECH1):c.420G>C (p.Trp140Cys)	ECH1 (W140C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616423	NM_001398.3(ECH1):c.392A>G (p.Lys131Arg)	ECH1 (K131R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 559112	NM_001398.3(ECH1):c.375G>A (p.Ser125=)	ECH1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2219676	NM_001398.3(ECH1):c.350G>A (p.Gly117Asp)	ECH1 (G117D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 559113	NM_001398.3(ECH1):c.349+27C>G	ECH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559114	NM_001398.3(ECH1):c.349+9C>G	ECH1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2276964	NM_001398.3(ECH1):c.344C>T (p.Thr115Ile)	ECH1 (T115I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331254	NM_001398.3(ECH1):c.303C>G (p.Asp101Glu)	ECH1 (D101E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401229	NM_001398.3(ECH1):c.284A>G (p.Lys95Arg)	ECH1 (K95R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2276426	NM_001398.3(ECH1):c.283A>C (p.Lys95Gln)	ECH1 (K95Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495044	NM_001398.3(ECH1):c.264G>T (p.Glu88Asp)	ECH1 (E88D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086934	NM_001398.3(ECH1):c.206A>G (p.His69Arg)	ECH1 (H69R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 559115	NM_001398.3(ECH1):c.122A>C (p.Glu41Ala)	ECH1 (E41A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2608476	NM_001398.3(ECH1):c.116A>G (p.Gln39Arg)	ECH1 (Q39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086937	NM_001398.3(ECH1):c.88A>T (p.Ser30Cys)	ECH1 (S30C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546956	NM_001398.3(ECH1):c.77G>A (p.Gly26Glu)	ECH1 (G26E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 559116	NM_001398.3(ECH1):c.-2C>A	ECH1, LOC130064376	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3024610	GRCh37/hg19 19q13.2(chr19:38909031-39308215)x3	ACTN4, CAPN12 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	DPF1, ECH1 +34 more	Duplication	RYR1-related disorder	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic

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Items: 42