ERI2[gene] - ClinVar

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 151156	GRCh38/hg38 16p12.3-12.2(chr16:20408020-21244474)x1	ACSM1, ACSM2A +35 more	Copy number loss	See cases	GUncertain significance
Select item 2462129	NM_005622.4(ACSM3):c.646A>C (p.Ser216Arg)	ACSM3, ERI2 (L303R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480887	NM_005622.4(ACSM3):c.699C>G (p.Phe233Leu)	ACSM3, ERI2 (F233L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369873	NM_005622.4(ACSM3):c.725C>T (p.Pro242Leu)	ACSM3, ERI2 (P242L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140557	NM_005622.4(ACSM3):c.779G>C (p.Gly260Ala)	ACSM3, ERI2 (G260A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226967	NM_005622.4(ACSM3):c.783G>C (p.Arg261Ser)	ACSM3, ERI2 (R261S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140562	NM_005622.4(ACSM3):c.803C>G (p.Pro268Arg)	ACSM3, ERI2 (P268R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301958	NM_005622.4(ACSM3):c.826T>A (p.Ser276Thr)	ACSM3, ERI2 (S276T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140568	NM_005622.4(ACSM3):c.833C>T (p.Thr278Met)	ACSM3, ERI2 (T278M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3026207	NM_005622.4(ACSM3):c.834G>A (p.Thr278=)	ACSM3, ERI2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 3140570	NM_005622.4(ACSM3):c.857G>T (p.Ser286Ile)	ACSM3, ERI2 (S286I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319655	NM_005622.4(ACSM3):c.871C>T (p.Pro291Ser)	ACSM3, ERI2 (P291S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379701	NM_005622.4(ACSM3):c.872C>T (p.Pro291Leu)	ACSM3, ERI2 (P291L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3140581	NM_005622.4(ACSM3):c.884G>A (p.Gly295Glu)	ACSM3, ERI2 (G295E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263217	NM_005622.4(ACSM3):c.940A>T (p.Thr314Ser)	ACSM3, ERI2 (T314S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140584	NM_005622.4(ACSM3):c.956C>T (p.Pro319Leu)	ACSM3, ERI2 (P319L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247648	NM_005622.4(ACSM3):c.988T>C (p.Tyr330His)	ACSM3, ERI2 (Y330H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263148	NM_005622.4(ACSM3):c.992G>A (p.Arg331Gln)	ACSM3, ERI2 (R331Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537351	NM_005622.4(ACSM3):c.1109T>C (p.Leu370Pro)	ACSM3, ERI2 (L370P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324723	NM_005622.4(ACSM3):c.1154G>C (p.Cys385Ser)	ACSM3, ERI2 (C385S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348798	NM_005622.4(ACSM3):c.1162T>G (p.Phe388Val)	ACSM3, ERI2 (F388V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263221	NM_005622.4(ACSM3):c.1192A>G (p.Met398Val)	ACSM3, ERI2 (M398V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517691	NM_005622.4(ACSM3):c.1202C>T (p.Pro401Leu)	ACSM3, ERI2 (P401L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322831	NM_005622.4(ACSM3):c.1298G>A (p.Arg433Gln)	ACSM3, ERI2 (R433Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550952	NM_005622.4(ACSM3):c.1324G>A (p.Val442Ile)	ACSM3, ERI2 (V442I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2326957	NM_005622.4(ACSM3):c.1330A>C (p.Asn444His)	ACSM3, ERI2 (N444H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263185	NM_005622.4(ACSM3):c.1343C>T (p.Thr448Ile)	ACSM3, ERI2 (T448I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140508	NM_005622.4(ACSM3):c.1370A>G (p.Tyr457Cys)	ACSM3, ERI2 (Y457C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263195	NM_005622.4(ACSM3):c.1402G>A (p.Asp468Asn)	ACSM3, ERI2 (D468N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465480	NM_005622.4(ACSM3):c.1466G>T (p.Gly489Val)	ACSM3, ERI2 (G489V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532200	NM_005622.4(ACSM3):c.1478T>C (p.Val493Ala)	ACSM3, ERI2 (V493A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263228	NM_005622.4(ACSM3):c.1568T>C (p.Phe523Ser)	ACSM3, ERI2 (F523S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2321772	NM_005622.4(ACSM3):c.1573G>A (p.Val525Ile)	ACSM3, ERI2 (V525I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3263176	NM_005622.4(ACSM3):c.1588T>G (p.Tyr530Asp)	ACSM3, ERI2 (Y530D)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2622477	NM_005622.4(ACSM3):c.1667C>A (p.Pro556His)	ACSM3, ERI2 (P556H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2552875	NM_005622.4(ACSM3):c.1708A>G (p.Ser570Gly)	ACSM3, ERI2 (S570G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3140530	NM_005622.4(ACSM3):c.1742A>C (p.Lys581Thr)	ACSM3, ERI2 (K581T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3276345	NM_001142725.2(ERI2):c.2012G>T (p.Cys671Phe)	ERI2 (C671F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090187	NM_001142725.2(ERI2):c.1976G>T (p.Gly659Val)	ERI2 (G659V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594723	NM_001142725.2(ERI2):c.1940G>C (p.Arg647Thr)	ERI2 (R647T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090186	NM_001142725.2(ERI2):c.1912A>C (p.Lys638Gln)	ERI2 (K638Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369391	NM_001142725.2(ERI2):c.1873G>A (p.Gly625Arg)	ERI2 (G625R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298976	NM_001142725.2(ERI2):c.1865G>A (p.Cys622Tyr)	ERI2 (C622Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090185	NM_001142725.2(ERI2):c.1766G>C (p.Ser589Thr)	ERI2 (S589T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090184	NM_001142725.2(ERI2):c.1715G>A (p.Arg572His)	ERI2 (R572H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3090183	NM_001142725.2(ERI2):c.1690C>G (p.Pro564Ala)	ERI2 (P564A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090182	NM_001142725.2(ERI2):c.1582C>T (p.Leu528Phe)	ERI2 (L528F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276344	NM_001142725.2(ERI2):c.1562T>C (p.Val521Ala)	ERI2 (V521A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090181	NM_001142725.2(ERI2):c.1548G>A (p.Met516Ile)	ERI2 (M516I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316236	NM_001142725.2(ERI2):c.1526T>G (p.Phe509Cys)	ERI2 (F509C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276339	NM_001142725.2(ERI2):c.1483G>C (p.Asp495His)	ERI2 (D495H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305977	NM_001142725.2(ERI2):c.1426T>G (p.Tyr476Asp)	ERI2 (Y476D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090180	NM_001142725.2(ERI2):c.1267G>A (p.Val423Ile)	ERI2 (V423I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2210565	NM_001142725.2(ERI2):c.1157C>T (p.Thr386Ile)	ERI2 (T386I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536372	NM_001142725.2(ERI2):c.1153C>G (p.Pro385Ala)	ERI2 (P385A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459946	NM_001142725.2(ERI2):c.1150G>C (p.Val384Leu)	ERI2 (V384L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276341	NM_001142725.2(ERI2):c.1142C>A (p.Ser381Tyr)	ERI2 (S381Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279343	NM_001142725.2(ERI2):c.1108G>C (p.Ala370Pro)	ERI2 (A370P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276343	NM_001142725.2(ERI2):c.870T>A (p.His290Gln)	ERI2 (H290Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392499	NM_001142725.2(ERI2):c.652G>A (p.Asp218Asn)	ERI2 (D218N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276340	NM_001142725.2(ERI2):c.554C>A (p.Thr185Asn)	ERI2 (T185N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276342	NM_001142725.2(ERI2):c.539T>C (p.Ile180Thr)	ERI2 (I180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090189	NM_001142725.2(ERI2):c.493T>C (p.Cys165Arg)	ERI2 (C165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323579	NM_001142725.2(ERI2):c.485A>C (p.Glu162Ala)	ERI2 (E162A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335342	NM_001142725.2(ERI2):c.475G>T (p.Val159Phe)	ERI2 (V159F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090188	NM_001142725.2(ERI2):c.262A>G (p.Ile88Val)	ERI2 (I88V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2507578	NM_001142725.2(ERI2):c.251A>G (p.Gln84Arg)	ERI2 (Q84R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546707	NM_001142725.2(ERI2):c.201C>G (p.Asn67Lys)	ERI2 (N67K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277572	NM_001142725.2(ERI2):c.5C>T (p.Ala2Val)	ERI2, REXO5 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1526505	GRCh37/hg19 16p12.3-12.2(chr16:20258837-21405328)	ERI2, GP2 +15 more	Copy number gain	not specified	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	ACSM1, ACSM2A +119 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221513	GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	ACSM1, ACSM2A +95 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 86