ECI1[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	OR1F1, OR2C1 +916 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC130058195, LOC130058196 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	RMI2, RNF151 +842 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058340, LOC130058341 +925 more	Copy number gain	See cases	GPathogenic
Select item 1696838	NC_000016.10:g.2066081_2241220del	BRICD5, CASKIN1 +33 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 495325	NC_000016.10:g.2077605_2284389dup	ABCA3, BRICD5 +44 more	Duplication	Endometrial carcinoma	GUncertain significance
Select item 2517806	NM_001919.4(ECI1):c.851A>T (p.Asp284Val)	ECI1 (D267V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463127	NM_001919.4(ECI1):c.820G>A (p.Val274Met)	ECI1 (V274M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301281	NM_001919.4(ECI1):c.818A>G (p.Asp273Gly)	ECI1 (D273G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386280	NM_001919.4(ECI1):c.794G>A (p.Arg265His)	ECI1 (R265H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393605	NM_001919.4(ECI1):c.793C>T (p.Arg265Cys)	ECI1 (R265C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 546766	NM_001919.4(ECI1):c.785C>T (p.Thr262Met)	ECI1 (T262M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2509012	NM_001919.4(ECI1):c.776G>A (p.Arg259Gln)	ECI1 (R259Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342157	NM_001919.4(ECI1):c.641C>T (p.Pro214Leu)	ECI1 (P214L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495691	NM_001919.4(ECI1):c.622C>A (p.Leu208Met)	ECI1 (L208M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224107	NM_001919.4(ECI1):c.589A>T (p.Ile197Phe)	ECI1 (I180F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 218600	NM_001919.4(ECI1):c.580G>A (p.Glu194Lys)	ECI1 (E194K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207097	NM_001919.4(ECI1):c.416A>T (p.Asn139Ile)	ECI1 (N139I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269600	NM_001919.4(ECI1):c.400C>T (p.Arg134Trp)	ECI1 (R134W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351112	NM_001919.4(ECI1):c.382G>A (p.Val128Ile)	ECI1 (V128I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242488	NM_001919.4(ECI1):c.361T>C (p.Tyr121His)	ECI1 (Y121H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385097	NM_001919.4(ECI1):c.355G>A (p.Ala119Thr)	ECI1 (A119T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331973	NM_001919.4(ECI1):c.334G>A (p.Glu112Lys)	ECI1 (E112K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2689000	NM_001919.4(ECI1):c.300_303dup (p.Gly102fs)	ECI1 (G102fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2590456	NM_001919.4(ECI1):c.302C>T (p.Pro101Leu)	ECI1 (P101L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782406	NM_001919.4(ECI1):c.299G>A (p.Arg100His)	ECI1 (R100H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2372048	NM_001919.4(ECI1):c.274C>T (p.Arg92Cys)	ECI1 (R92C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 979155	NM_001919.4(ECI1):c.227C>T (p.Thr76Met)	ECI1 (T76M)	Single nucleotide variant (missense variant)	Complex I deficiency	GBenign
Select item 2272852	NM_001919.4(ECI1):c.152C>G (p.Pro51Arg)	ECI1, LOC130058225 (P51R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512078	NM_001919.4(ECI1):c.143T>G (p.Leu48Arg)	ECI1, LOC130058225 (L48R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240753	NM_001919.4(ECI1):c.46C>T (p.Arg16Cys)	ECI1, LOC130058225 (R16C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	PRSS21, PRSS22 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 1808520	GRCh37/hg19 16p13.3(chr16:1942430-2653144)x3	ABCA3, AMDHD2 +35 more	Copy number gain	not provided	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526483	GRCh37/hg19 16p13.3(chr16:1847662-2653144)	ABCA3, AMDHD2 +38 more	Copy number gain	not specified	GUncertain significance
Select item 1340286	GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3	ABCA3, AMDHD2 +41 more	Copy number gain	not provided	GUncertain significance
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 1010653	NC_000016.9:g.(?_2098597)_(2550979_?)dup	ABCA3, BRICD5 +16 more	Duplication	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 833344	NC_000016.9:g.(?_624055)_(2550979_?)dup	ABCA3, ANTKMT +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 685170	GRCh37/hg19 16p13.3(chr16:2070917-2592737)x3	ABCA3, AMDHD2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 560100	Single allele	DNASE1L2, E4F1 +16 more	Duplication	not provided	GUncertain significance
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 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 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	ABAT, ABCA3 +263 more	Copy number gain	See cases	GPathogenic
Select item 441740	GRCh37/hg19 16p13.3(chr16:643377-3125125)x3	ABCA3, AMDHD2 +111 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	ABAT, ABCA3 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 394047	GRCh37/hg19 16p13.3(chr16:2213879-2348394)x3	ABCA3, BRICD5 +8 more	Copy number gain	See cases	GUncertain significance
Select item 375693	maternal UPD(16p)	ITGAM, NPIPA3 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 253688	GRCh37/hg19 16p13.3(chr16:2188712-2580690)x4	CEMP1, E4F1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 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: 65