ERO1A[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic
Select item 146623	GRCh38/hg38 14q22.1-22.3(chr14:51544846-55320598)x1	BMP4, CDKN3 +147 more	Copy number loss	See cases	GPathogenic
Select item 776840	NM_014584.3(ERO1A):c.1290T>C (p.Ser430=)	ERO1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3090340	NM_014584.3(ERO1A):c.1257A>C (p.Lys419Asn)	ERO1A (K379N +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599136	NM_014584.3(ERO1A):c.1169A>G (p.Asp390Gly)	ERO1A (D350G +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591904	NM_014584.3(ERO1A):c.1079A>G (p.Glu360Gly)	ERO1A (E280G +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461973	NM_014584.3(ERO1A):c.1008G>T (p.Gln336His)	ERO1A (Q268H +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589282	NM_014584.3(ERO1A):c.971G>T (p.Arg324Leu)	ERO1A (R239L +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295391	NM_014584.3(ERO1A):c.940G>A (p.Ala314Thr)	ERO1A (A234T +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258106	NM_014584.3(ERO1A):c.869G>T (p.Gly290Val)	ERO1A (G250V +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300549	NM_014584.3(ERO1A):c.718C>G (p.Leu240Val)	ERO1A (L172V +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 716384	NM_014584.3(ERO1A):c.716-7T>G	ERO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 716385	NM_014584.3(ERO1A):c.690G>A (p.Glu230=)	ERO1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2276246	NM_014584.3(ERO1A):c.647G>C (p.Arg216Thr)	ERO1A (R229T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400054	NM_014584.3(ERO1A):c.514C>G (p.Gln172Glu)	ERO1A (Q135E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 716386	NM_014584.3(ERO1A):c.435-5T>C	ERO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3090341	NM_014584.3(ERO1A):c.383T>C (p.Ile128Thr)	ERO1A (I99T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323015	NM_014584.3(ERO1A):c.99G>C (p.Gln33His)	ERO1A (Q33H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357077	NM_014584.3(ERO1A):c.92C>G (p.Ala31Gly)	ERO1A (A31G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322085	NM_014584.3(ERO1A):c.10G>A (p.Gly4Ser)	ERO1A (G4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684725	GRCh37/hg19 14q22.1(chr14:53005584-53252148)x3	ERO1A, GNPNAT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 564118	GRCh37/hg19 14q22.1(chr14:53077252-53557861)x3	DDHD1, GNPNAT1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic

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Items: 29