EFCC1[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 57147	GRCh38/hg38 3q21.3(chr3:128601065-129182579)x3	ACAD9, ACAD9-DT +38 more	Copy number gain	See cases	GUncertain significance
Select item 2493568	NM_001377500.1(EFCC1):c.4G>A (p.Glu2Lys)	CFAP92, EFCC1 (E2K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274649	NM_001377500.1(EFCC1):c.23C>T (p.Ala8Val)	CFAP92, EFCC1 (A8V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548326	NM_001377500.1(EFCC1):c.41G>T (p.Gly14Val)	CFAP92, EFCC1 (G14V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087512	NM_001377500.1(EFCC1):c.43G>T (p.Ala15Ser)	CFAP92, EFCC1 (A15S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591424	NM_001377500.1(EFCC1):c.52G>C (p.Asp18His)	CFAP92, EFCC1 (D18H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219144	NM_001377500.1(EFCC1):c.89T>G (p.Leu30Arg)	CFAP92, EFCC1 (L30R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351215	NM_001377500.1(EFCC1):c.98C>T (p.Ala33Val)	CFAP92, EFCC1 (A33V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087510	NM_001377500.1(EFCC1):c.239G>A (p.Arg80Gln)	CFAP92, EFCC1 (R80Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516597	NM_001377500.1(EFCC1):c.268G>A (p.Ala90Thr)	CFAP92, EFCC1 (A90T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087511	NM_001377500.1(EFCC1):c.318A>T (p.Arg106Ser)	CFAP92, EFCC1 (R106S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274653	NM_001377500.1(EFCC1):c.356C>T (p.Thr119Met)	CFAP92, EFCC1 (T119M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342274	NM_001377500.1(EFCC1):c.400C>T (p.Arg134Cys)	CFAP92, EFCC1 (R134C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620918	NM_001377500.1(EFCC1):c.401G>C (p.Arg134Pro)	CFAP92, EFCC1 (R134P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351426	NM_001377500.1(EFCC1):c.403G>A (p.Ala135Thr)	CFAP92, EFCC1 (A135T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204579	NM_001377500.1(EFCC1):c.511G>A (p.Glu171Lys)	CFAP92, EFCC1 (E171K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2515961	NM_001377500.1(EFCC1):c.554C>A (p.Pro185Gln)	CFAP92, EFCC1 (P185Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3274651	NM_001377500.1(EFCC1):c.584C>G (p.Pro195Arg)	CFAP92, EFCC1 (P195R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2588235	NM_001377500.1(EFCC1):c.598G>T (p.Val200Phe)	CFAP92, EFCC1 (V200F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2519492	NM_001377500.1(EFCC1):c.625A>C (p.Ser209Arg)	CFAP92, EFCC1 (S209R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546873	NM_001377500.1(EFCC1):c.797C>T (p.Ala266Val)	CFAP92, EFCC1 (A266V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3087513	NM_001377500.1(EFCC1):c.811G>T (p.Ala271Ser)	CFAP92, EFCC1 (A271S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3087514	NM_001377500.1(EFCC1):c.890A>G (p.His297Arg)	CFAP92, EFCC1 (H297R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2296409	NM_001377500.1(EFCC1):c.896T>A (p.Val299Glu)	CFAP92, EFCC1 (V299E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2359195	NM_001377500.1(EFCC1):c.908A>C (p.Glu303Ala)	CFAP92, EFCC1 (E303A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269006	NM_001377500.1(EFCC1):c.908A>G (p.Glu303Gly)	CFAP92, EFCC1 (E303G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522963	NM_001377500.1(EFCC1):c.920A>G (p.Gln307Arg)	CFAP92, EFCC1 (Q307R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2607430	NM_001377500.1(EFCC1):c.939G>C (p.Gln313His)	CFAP92, EFCC1 (Q313H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654117	NM_001377500.1(EFCC1):c.952C>A (p.Arg318=)	CFAP92, EFCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2229702	NM_001377500.1(EFCC1):c.977A>G (p.Tyr326Cys)	CFAP92, EFCC1 (Y326C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267171	NM_001377500.1(EFCC1):c.988G>A (p.Asp330Asn)	EFCC1 (D330N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318098	NM_001377500.1(EFCC1):c.1054G>A (p.Asp352Asn)	EFCC1 (D352N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087505	NM_001377500.1(EFCC1):c.1118G>A (p.Gly373Glu)	EFCC1 (G373E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087506	NM_001377500.1(EFCC1):c.1227G>C (p.Lys409Asn)	EFCC1 (K408N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205258	NM_001377500.1(EFCC1):c.1238C>T (p.Ala413Val)	EFCC1 (A412V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654118	NM_001377500.1(EFCC1):c.1239A>C (p.Ala413=)	EFCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2395679	NM_001377500.1(EFCC1):c.1243G>A (p.Glu415Lys)	EFCC1 (E415K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508439	NM_001377500.1(EFCC1):c.1336G>A (p.Gly446Ser)	EFCC1 (G446S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225920	NM_001377500.1(EFCC1):c.1339G>A (p.Gly447Ser)	EFCC1 (G446S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2254663	NM_001377500.1(EFCC1):c.1379G>A (p.Cys460Tyr)	EFCC1 (C459Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087507	NM_001377500.1(EFCC1):c.1382T>C (p.Ile461Thr)	EFCC1 (I460T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372794	NM_001377500.1(EFCC1):c.1384G>T (p.Ala462Ser)	EFCC1 (A462S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459383	NM_001377500.1(EFCC1):c.1409C>T (p.Thr470Ile)	EFCC1 (T470I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087508	NM_001377500.1(EFCC1):c.1430C>A (p.Thr477Asn)	EFCC1 (T476N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274650	NM_001377500.1(EFCC1):c.1454C>A (p.Ala485Glu)	EFCC1 (A484E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300380	NM_001377500.1(EFCC1):c.1486C>T (p.His496Tyr)	EFCC1 (H495Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087509	NM_001377500.1(EFCC1):c.1523G>A (p.Arg508Lys)	EFCC1 (R507K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330607	NM_001377500.1(EFCC1):c.1529G>A (p.Arg510Gln)	EFCC1 (R509Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2245317	NM_001377500.1(EFCC1):c.1543G>A (p.Glu515Lys)	EFCC1 (E514K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381482	NM_001377500.1(EFCC1):c.1652A>T (p.Asp551Val)	EFCC1 (D550V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304625	NM_001377500.1(EFCC1):c.1726C>G (p.Leu576Val)	EFCC1 (L575V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288108	NM_001377500.1(EFCC1):c.1763C>T (p.Ala588Val)	EFCC1 (A587V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224540	NM_001377500.1(EFCC1):c.1769C>T (p.Ala590Val)	EFCC1 (A590V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424798	NC_000003.11:g.(?_126707437)_(130720194_?)dup	ABTB1, ACAD9 +38 more	Duplication	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 562815	GRCh37/hg19 3q21.3-22.1(chr3:128660985-129811200)x1	ALG1L2, CFAP92 +17 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 65