ERGIC3[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 152798	GRCh38/hg38 20q11.22(chr20:35285724-35744837)x1	C20orf173, CEP250 +35 more	Copy number loss	See cases	GPathogenic
Select item 3090165	NM_015966.3(ERGIC3):c.208A>G (p.Ile70Val)	ERGIC3 (I70V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514689	NM_015966.3(ERGIC3):c.370C>G (p.Leu124Val)	ERGIC3 (L124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227892	NM_015966.3(ERGIC3):c.389C>T (p.Thr130Met)	ERGIC3 (T130M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090166	NM_015966.3(ERGIC3):c.487C>T (p.Arg163Trp)	ERGIC3 (R163W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090167	NM_015966.3(ERGIC3):c.557G>T (p.Gly186Val)	ERGIC3 (G186V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490941	NM_015966.3(ERGIC3):c.571A>G (p.Met191Val)	ERGIC3 (M191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287168	NM_015966.3(ERGIC3):c.619G>A (p.Val207Ile)	ERGIC3 (V207I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516743	NM_015966.3(ERGIC3):c.686-664G>A	ERGIC3 (V232M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090170	NM_015966.3(ERGIC3):c.713A>G (p.Asp238Gly)	ERGIC3 (D238G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 983448	NM_015966.3(ERGIC3):c.717+1G>A	ERGIC3	Single nucleotide variant (splice donor variant)	See cases	GUncertain significance
Select item 777543	NM_015966.3(ERGIC3):c.718-4A>G	ERGIC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2661907	NM_015966.3(ERGIC3):c.829C>T (p.Gln277Ter)	ERGIC3 (Q277* +1 more)	Single nucleotide variant (nonsense)	Developmental disorder	GLikely pathogenic
Select item 2374577	NM_015966.3(ERGIC3):c.877G>C (p.Glu293Gln)	ERGIC3 (E298Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777544	NM_015966.3(ERGIC3):c.885G>A (p.Leu295=)	ERGIC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3090171	NM_015966.3(ERGIC3):c.931G>T (p.Gly311Trp)	ERGIC3 (G311W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090163	NM_015966.3(ERGIC3):c.1004C>G (p.Thr335Arg)	ERGIC3 (T340R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090164	NM_015966.3(ERGIC3):c.1091C>T (p.Ser364Leu)	ERGIC3 (S364L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248260	NC_000020.10:g.(?_31368130)_(34287210_?)del	ACSS2, ACTL10 +51 more	Deletion	Glutathione synthetase deficiency with 5-oxoprolinuria	GPathogenic
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1457888	NC_000020.10:g.(?_31189994)_(34287210_?)del	ACSS2, ACTL10 +53 more	Deletion	not provided	GPathogenic
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic

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Items: 30