ERLEC1[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 3276376	NM_015701.5(ERLEC1):c.32T>C (p.Leu11Pro)	ERLEC1, GPR75-ASB3 (L11P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223017	NM_015701.5(ERLEC1):c.88G>C (p.Gly30Arg)	ERLEC1, GPR75-ASB3 (G30R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340534	NM_015701.5(ERLEC1):c.108A>C (p.Gln36His)	ERLEC1, GPR75-ASB3 (Q36H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090273	NM_015701.5(ERLEC1):c.281A>G (p.Asp94Gly)	ERLEC1, GPR75-ASB3 (D94G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398435	NM_015701.5(ERLEC1):c.286A>C (p.Lys96Gln)	ERLEC1, GPR75-ASB3 (K96Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090274	NM_015701.5(ERLEC1):c.290G>T (p.Gly97Val)	ERLEC1, GPR75-ASB3 (G97V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276377	NM_015701.5(ERLEC1):c.315G>C (p.Glu105Asp)	ERLEC1, GPR75-ASB3 (E105D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090275	NM_015701.5(ERLEC1):c.338G>T (p.Cys113Phe)	ERLEC1, GPR75-ASB3 (C113F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090276	NM_015701.5(ERLEC1):c.347G>C (p.Arg116Thr)	ERLEC1, GPR75-ASB3 (R116T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 830378	NM_015701.5(ERLEC1):c.419C>T (p.Thr140Ile)	ERLEC1, GPR75-ASB3 (T140I)	Single nucleotide variant (missense variant +1 more)	Mandibular prognathia	GLikely pathogenic
Select item 830377	NM_015701.5(ERLEC1):c.419C>G (p.Thr140Ser)	ERLEC1, GPR75-ASB3 (T140S)	Single nucleotide variant (missense variant +1 more)	Mandibular prognathia	GLikely pathogenic
Select item 2257998	NM_015701.5(ERLEC1):c.496G>A (p.Glu166Lys)	ERLEC1, GPR75-ASB3 (E166K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590570	NM_015701.5(ERLEC1):c.504A>C (p.Glu168Asp)	ERLEC1, GPR75-ASB3 (E168D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090277	NM_015701.5(ERLEC1):c.550C>G (p.Gln184Glu)	ERLEC1, GPR75-ASB3 (Q184E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537881	NM_015701.5(ERLEC1):c.613C>T (p.Arg205Trp)	ERLEC1, GPR75-ASB3 (R205W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090278	NM_015701.5(ERLEC1):c.640A>T (p.Ile214Leu)	ERLEC1, GPR75-ASB3 (I214L)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2363953	NM_015701.5(ERLEC1):c.706G>A (p.Val236Ile)	ERLEC1, GPR75-ASB3 (V236I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511142	NM_015701.5(ERLEC1):c.851T>C (p.Leu284Pro)	ERLEC1, GPR75-ASB3 (L284P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650912	NM_015701.5(ERLEC1):c.856G>A (p.Val286Met)	ERLEC1, GPR75-ASB3 (V286M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2556235	NM_015701.5(ERLEC1):c.895A>G (p.Thr299Ala)	ERLEC1, GPR75-ASB3 (T299A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473413	NM_015701.5(ERLEC1):c.917C>T (p.Ala306Val)	ERLEC1, GPR75-ASB3 (A306V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390649	NM_015701.5(ERLEC1):c.937A>G (p.Ile313Val)	ERLEC1, GPR75-ASB3 (I313V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3090279	NM_015701.5(ERLEC1):c.947A>G (p.Gln316Arg)	ERLEC1, GPR75-ASB3 (Q316R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228362	NM_015701.5(ERLEC1):c.949C>T (p.Pro317Ser)	ERLEC1, GPR75-ASB3 (P317S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548019	NM_015701.5(ERLEC1):c.953T>C (p.Val318Ala)	ERLEC1, GPR75-ASB3 (V318A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090280	NM_015701.5(ERLEC1):c.962T>C (p.Val321Ala)	ERLEC1, GPR75-ASB3 (V321A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568948	NM_015701.5(ERLEC1):c.983A>G (p.Lys328Arg)	ERLEC1, GPR75-ASB3 (K328R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514034	NM_015701.5(ERLEC1):c.1037G>T (p.Arg346Leu)	ERLEC1, GPR75-ASB3 (R346L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775714	NM_015701.5(ERLEC1):c.1062T>C (p.Tyr354=)	ERLEC1, GPR75-ASB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2517851	NM_015701.5(ERLEC1):c.1079A>G (p.Lys360Arg)	ERLEC1, GPR75-ASB3 (K306R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558004	NM_015701.5(ERLEC1):c.1096C>T (p.His366Tyr)	ERLEC1, GPR75-ASB3 (H366Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592483	NM_015701.5(ERLEC1):c.1104C>G (p.Asp368Glu)	ERLEC1, GPR75-ASB3 (D368E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472370	NM_015701.5(ERLEC1):c.1114G>A (p.Gly372Arg)	ERLEC1, GPR75-ASB3 (G372R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090270	NM_015701.5(ERLEC1):c.1150G>A (p.Glu384Lys)	ERLEC1, GPR75-ASB3 (E330K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386706	NM_015701.5(ERLEC1):c.1169C>T (p.Ala390Val)	ERLEC1, GPR75-ASB3 (A336V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090271	NM_015701.5(ERLEC1):c.1181C>T (p.Thr394Ile)	ERLEC1, GPR75-ASB3 (T394I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090272	NM_015701.5(ERLEC1):c.1231G>A (p.Val411Met)	ERLEC1, GPR75-ASB3 (V411M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 830376	NM_015701.5(ERLEC1):c.1237C>T (p.His413Tyr)	ERLEC1, GPR75-ASB3 (H413Y +1 more)	Single nucleotide variant (missense variant +1 more)	Mandibular prognathia	GLikely pathogenic
Select item 2245791	NM_015701.5(ERLEC1):c.1355C>T (p.Pro452Leu)	ERLEC1, GPR75-ASB3 (P398L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287434	NM_015701.5(ERLEC1):c.1367A>G (p.Gln456Arg)	ERLEC1, GPR75-ASB3 (Q456R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296847	NM_015701.5(ERLEC1):c.1435C>A (p.Leu479Ile)	ERLEC1, GPR75-ASB3 (L425I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 830379	NM_015701.5(ERLEC1):c.1448A>G (p.Asn483Ser)	ERLEC1, GPR75-ASB3 (N429S +2 more)	Single nucleotide variant (missense variant +1 more)	Mandibular prognathia	GLikely pathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 980981	GRCh37/hg19 2p16.2(chr2:54014939-54071351)x1	ERLEC1, GPR75-ASB3	Copy number loss	not provided	GLikely benign
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442274	GRCh37/hg19 2p21-16.2(chr2:47361260-54934153)x1	ACYP2, ASB3 +25 more	Copy number loss	See cases	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 221422	GRCh37/hg19 2p16.2(chr2:53995091-54042035)x3	ASB3, ERLEC1 +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 55