ERGIC1[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 58395	GRCh38/hg38 5q35.1-35.2(chr5:172776798-174342969)x1	ATP6V0E1, BNIP1 +91 more	Copy number loss	See cases	GPathogenic
Select item 3367130	NM_001031711.3(ERGIC1):c.155+1G>A	ERGIC1	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 2, neurogenic type	GUncertain significance
Select item 2510362	NM_001031711.3(ERGIC1):c.241C>T (p.His81Tyr)	ERGIC1 (H81Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090153	NM_001031711.3(ERGIC1):c.242A>T (p.His81Leu)	ERGIC1 (H81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531087	NM_001031711.3(ERGIC1):c.281G>A (p.Gly94Asp)	ERGIC1 (G94D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 523093	NM_001031711.3(ERGIC1):c.293T>A (p.Val98Glu)	ERGIC1 (V98E)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 2, neurogenic type	GPathogenic
Select item 3090154	NM_001031711.3(ERGIC1):c.304G>A (p.Asp102Asn)	ERGIC1 (D102N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250870	NM_001031711.3(ERGIC1):c.305A>C (p.Asp102Ala)	ERGIC1 (D102A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276327	NM_001031711.3(ERGIC1):c.323C>T (p.Pro108Leu)	ERGIC1 (P108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656079	NM_001031711.3(ERGIC1):c.375+128C>T	ERGIC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2656080	NM_001031711.3(ERGIC1):c.375+758C>T	ERGIC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2292431	NM_001031711.3(ERGIC1):c.394G>A (p.Val132Met)	ERGIC1 (V132M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040866	NM_001031711.3(ERGIC1):c.513C>T (p.Leu171=)	ERGIC1	Single nucleotide variant (synonymous variant)	ERGIC1-related disorder	GLikely benign
Select item 3276328	NM_001031711.3(ERGIC1):c.587A>T (p.Tyr196Phe)	ERGIC1 (Y196F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031824	NM_001031711.3(ERGIC1):c.643-5C>T	ERGIC1	Single nucleotide variant (intron variant)	ERGIC1-related disorder	GLikely benign
Select item 2656081	NM_001031711.3(ERGIC1):c.652G>A (p.Ala218Thr)	ERGIC1 (A218T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2405969	NM_001031711.3(ERGIC1):c.673A>C (p.Ile225Leu)	ERGIC1 (I225L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512116	NM_001031711.3(ERGIC1):c.685A>G (p.Ile229Val)	ERGIC1 (I229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090155	NM_001031711.3(ERGIC1):c.727A>G (p.Thr243Ala)	ERGIC1 (T243A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242824	NM_001031711.3(ERGIC1):c.736C>T (p.Arg246Trp)	ERGIC1 (R246W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481178	NM_001031711.3(ERGIC1):c.764C>T (p.Thr255Met)	ERGIC1 (T255M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033413	NM_001031711.3(ERGIC1):c.766-9C>T	ERGIC1	Single nucleotide variant (intron variant)	ERGIC1-related disorder	GLikely benign
Select item 3090157	NM_001031711.3(ERGIC1):c.779T>C (p.Ile260Thr)	ERGIC1 (I260T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 816810	NM_001031711.3(ERGIC1):c.782G>A (p.Gly261Asp)	ERGIC1 (G261D)	Single nucleotide variant (missense variant)	Flexion contracture	GLikely pathogenic
Select item 3276329	NM_001031711.3(ERGIC1):c.784G>A (p.Gly262Arg)	ERGIC1 (G262R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338276	NM_001031711.3(ERGIC1):c.799G>A (p.Ala267Thr)	ERGIC1 (A267T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246450	NC_000005.9:g.(?_171765373)_(172550225_?)del	ATP6V0E1, CREBRF +6 more	Deletion	not provided	GPathogenic
Select item 3246360	NC_000005.9:g.(?_171765373)_(172662086_?)del	ATP6V0E1, BNIP1 +8 more	Deletion	Atrial septal defect 7	GPathogenic
Select item 2685184	GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1	ARL10, ATP6V0E1 +37 more	Copy number loss	not provided	GPathogenic
Select item 2425102	NC_000005.9:g.(?_172089144)_(172774583_?)del	ATP6V0E1, BNIP1 +8 more	Deletion	Atrial septal defect 7	GPathogenic
Select item 2423474	NC_000005.9:g.(?_171765373)_(172939426_?)dup	ATP6V0E1, BNIP1 +9 more	Duplication	not provided	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1527205	GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)	ATP6V0E1, BNIP1 +35 more	Copy number loss	not specified	GPathogenic
Select item 1012274	NC_000005.9:g.172252136_172274628del	ERGIC1	Deletion	Arthrogryposis multiplex congenita	GPathogenic
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 692223	GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1	SPDL1, TENM2 +37 more	Copy number loss	Atrial septal defect 7	GPathogenic
Select item 684725	NC_000005.9:g.172068277_172342131dup	DUSP1, ERGIC1 +1 more	Duplication	Congenital hydrocephalus	GUncertain significance
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 221448	GRCh37/hg19 5q35.1(chr5:172097061-172421802)x3	ATP6V0E1, DUSP1 +3 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 50