ClinVar for Gene (Select 79825) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 3087505	NM_001377500.1(EFCC1):c.1118G>A (p.Gly373Glu)	EFCC1 (G373E)	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 2654117	NM_001377500.1(EFCC1):c.952C>A (p.Arg318=)	CFAP92, EFCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2607430	NM_001377500.1(EFCC1):c.939G>C (p.Gln313His)	CFAP92, EFCC1 (Q313H)	Single nucleotide variant (missense variant)	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 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 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 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 2522963	NM_001377500.1(EFCC1):c.920A>G (p.Gln307Arg)	CFAP92, EFCC1 (Q307R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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 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 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 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 2424798	NC_000003.11:g.(?_126707437)_(130720194_?)dup	ABTB1, ACAD9 +38 more	Duplication	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
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 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 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 2359195	NM_001377500.1(EFCC1):c.908A>C (p.Glu303Ala)	CFAP92, EFCC1 (E303A)	Single nucleotide variant (missense variant)	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 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 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 2318098	NM_001377500.1(EFCC1):c.1054G>A (p.Asp352Asn)	EFCC1 (D352N)	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 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 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 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 2269006	NM_001377500.1(EFCC1):c.908A>G (p.Glu303Gly)	CFAP92, EFCC1 (E303G)	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 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 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 2229702	NM_001377500.1(EFCC1):c.977A>G (p.Tyr326Cys)	CFAP92, EFCC1 (Y326C)	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 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 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 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 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 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 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 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
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 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 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 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57147	GRCh38/hg38 3q21.3(chr3:128601065-129182579)x3	ACAD9, ACAD9-DT +38 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 65