EFCAB13[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 2300890	NM_152347.5(EFCAB13):c.57T>G (p.Asp19Glu)	EFCAB13 (D19E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050458	NM_152347.5(EFCAB13):c.98C>T (p.Thr33Ile)	EFCAB13 (T33I)	Single nucleotide variant (missense variant)	EFCAB13-related disorder	GBenign
Select item 2517727	NM_152347.5(EFCAB13):c.140A>C (p.Glu47Ala)	EFCAB13 (E47A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394076	NM_152347.5(EFCAB13):c.155C>T (p.Pro52Leu)	EFCAB13 (P52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039578	NM_152347.5(EFCAB13):c.339G>A (p.Lys113=)	EFCAB13	Single nucleotide variant (synonymous variant)	EFCAB13-related disorder	GBenign
Select item 2383369	NM_152347.5(EFCAB13):c.406C>T (p.Pro136Ser)	EFCAB13 (P136S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246150	NM_152347.5(EFCAB13):c.499C>G (p.His167Asp)	EFCAB13 (H167D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087410	NM_152347.5(EFCAB13):c.524A>G (p.His175Arg)	EFCAB13 (H175R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049648	NM_152347.5(EFCAB13):c.525T>C (p.His175=)	EFCAB13	Single nucleotide variant (synonymous variant +1 more)	EFCAB13-related disorder	GLikely benign
Select item 3274603	NM_152347.5(EFCAB13):c.554G>A (p.Arg185Gln)	EFCAB13 (R185Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059359	NM_152347.5(EFCAB13):c.631C>T (p.Arg211Ter)	EFCAB13 (R211*)	Single nucleotide variant (nonsense +1 more)	EFCAB13-related disorder	GBenign
Select item 2595403	NM_152347.5(EFCAB13):c.696A>G (p.Ile232Met)	EFCAB13 (I232M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041441	NM_152347.5(EFCAB13):c.706C>T (p.Arg236Ter)	EFCAB13 (R188* +1 more)	Single nucleotide variant (nonsense +1 more)	EFCAB13-related disorder	GBenign
Select item 2454605	NM_152347.5(EFCAB13):c.715A>G (p.Thr239Ala)	EFCAB13 (T239A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087411	NM_152347.5(EFCAB13):c.739G>C (p.Asp247His)	EFCAB13 (D199H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049039	NM_152347.5(EFCAB13):c.763C>T (p.Arg255Cys)	EFCAB13 (R207C +1 more)	Single nucleotide variant (missense variant +1 more)	EFCAB13-related disorder	GBenign
Select item 3055475	NM_152347.5(EFCAB13):c.806-1G>A	EFCAB13	Single nucleotide variant (splice acceptor variant)	EFCAB13-related disorder	GBenign
Select item 2232581	NM_152347.5(EFCAB13):c.806G>A (p.Ser269Asn)	EFCAB13 (S269N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614461	NM_152347.5(EFCAB13):c.823A>G (p.Ile275Val)	EFCAB13 (I179V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059163	NM_152347.5(EFCAB13):c.835A>G (p.Ile279Val)	EFCAB13 (I183V +2 more)	Single nucleotide variant (missense variant)	EFCAB13-related disorder	GBenign
Select item 2612624	NM_152347.5(EFCAB13):c.907A>G (p.Ile303Val)	EFCAB13 (I303V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059444	NM_152347.5(EFCAB13):c.934G>A (p.Val312Ile)	EFCAB13 (V216I +2 more)	Single nucleotide variant (missense variant)	EFCAB13-related disorder	GBenign
Select item 3274607	NM_152347.5(EFCAB13):c.971G>A (p.Ser324Asn)	EFCAB13 (S228N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515506	NM_152347.5(EFCAB13):c.973T>A (p.Leu325Met)	EFCAB13 (L229M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051249	NM_152347.5(EFCAB13):c.1032A>G (p.Gln344=)	EFCAB13	Single nucleotide variant (synonymous variant)	EFCAB13-related disorder	GLikely benign
Select item 2529083	NM_152347.5(EFCAB13):c.1106T>G (p.Phe369Cys)	EFCAB13 (F273C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038638	NM_152347.5(EFCAB13):c.1143A>G (p.Gln381=)	EFCAB13	Single nucleotide variant (synonymous variant)	EFCAB13-related disorder	GBenign
Select item 2518552	NM_152347.5(EFCAB13):c.1268G>T (p.Ser423Ile)	EFCAB13 (S423I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516161	NM_152347.5(EFCAB13):c.1277C>G (p.Ser426Cys)	EFCAB13 (S330C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274604	NM_152347.5(EFCAB13):c.1292T>G (p.Leu431Arg)	EFCAB13 (L431R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037567	NM_152347.5(EFCAB13):c.1297A>T (p.Lys433Ter)	EFCAB13 (K337* +2 more)	Single nucleotide variant (nonsense)	EFCAB13-related disorder	GLikely benign
Select item 2266332	NM_152347.5(EFCAB13):c.1306G>A (p.Val436Ile)	EFCAB13 (V340I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467184	NM_152347.5(EFCAB13):c.1340C>T (p.Ser447Leu)	EFCAB13 (S351L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592668	NM_152347.5(EFCAB13):c.1343C>T (p.Ser448Phe)	EFCAB13 (S352F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087407	NM_152347.5(EFCAB13):c.1346C>T (p.Thr449Met)	EFCAB13 (T449M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551010	NM_152347.5(EFCAB13):c.1521G>A (p.Met507Ile)	EFCAB13 (M411I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042531	NM_152347.5(EFCAB13):c.1530dup (p.Asp511fs)	EFCAB13 (D415fs +1 more)	Duplication (frameshift variant)	EFCAB13-related disorder	GLikely benign
Select item 2562194	NM_152347.5(EFCAB13):c.1570C>T (p.Pro524Ser)	EFCAB13 (P428S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274606	NM_152347.5(EFCAB13):c.1592G>A (p.Gly531Asp)	EFCAB13 (G435D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2328938	NM_152347.5(EFCAB13):c.1607T>C (p.Ile536Thr)	EFCAB13 (I440T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060645	NM_152347.5(EFCAB13):c.1622A>T (p.Asp541Val)	EFCAB13 (D445V +2 more)	Single nucleotide variant (missense variant)	EFCAB13-related disorder	GBenign
Select item 3057043	NM_152347.5(EFCAB13):c.1638T>G (p.Tyr546Ter)	EFCAB13 (Y450* +2 more)	Single nucleotide variant (nonsense)	EFCAB13-related disorder	GBenign
Select item 2477267	NM_152347.5(EFCAB13):c.1639G>A (p.Glu547Lys)	EFCAB13 (E547K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033366	NM_152347.5(EFCAB13):c.1651A>G (p.Thr551Ala)	EFCAB13 (T455A +2 more)	Single nucleotide variant (missense variant)	EFCAB13-related disorder	GBenign
Select item 2340266	NM_152347.5(EFCAB13):c.1744T>G (p.Phe582Val)	EFCAB13 (F486V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274605	NM_152347.5(EFCAB13):c.1765A>G (p.Met589Val)	EFCAB13 (M589V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056828	NM_152347.5(EFCAB13):c.1779G>A (p.Thr593=)	EFCAB13	Single nucleotide variant (synonymous variant)	EFCAB13-related disorder	GBenign
Select item 3056878	NM_152347.5(EFCAB13):c.1802-9A>G	EFCAB13	Single nucleotide variant (intron variant)	EFCAB13-related disorder	GLikely benign
Select item 3055697	NM_152347.5(EFCAB13):c.1831G>A (p.Asp611Asn)	EFCAB13 (D611N +2 more)	Single nucleotide variant (missense variant)	EFCAB13-related disorder	GBenign
Select item 2530395	NM_152347.5(EFCAB13):c.1843G>A (p.Glu615Lys)	EFCAB13 (E519K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052516	NM_152347.5(EFCAB13):c.1848G>A (p.Thr616=)	EFCAB13	Single nucleotide variant (synonymous variant)	EFCAB13-related disorder	GLikely benign
Select item 3044488	NM_152347.5(EFCAB13):c.1945+4_1945+7del	EFCAB13	Deletion (splice donor variant)	EFCAB13-related disorder	GBenign
Select item 3038883	NM_152347.5(EFCAB13):c.1947dup (p.Gly650fs)	EFCAB13 (G554fs +1 more)	Duplication (frameshift variant)	EFCAB13-related disorder	GBenign
Select item 2269847	NM_152347.5(EFCAB13):c.1960C>A (p.Gln654Lys)	EFCAB13 (Q558K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515025	NM_152347.5(EFCAB13):c.1996C>T (p.Arg666Cys)	EFCAB13 (R570C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345200	NM_152347.5(EFCAB13):c.1997G>A (p.Arg666His)	EFCAB13 (R570H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2559306	NM_152347.5(EFCAB13):c.2039C>T (p.Ala680Val)	EFCAB13 (A680V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248576	NM_152347.5(EFCAB13):c.2135A>G (p.Lys712Arg)	EFCAB13 (K616R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294848	NM_152347.5(EFCAB13):c.2165A>G (p.Asp722Gly)	EFCAB13 (D722G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059807	NM_152347.5(EFCAB13):c.2391C>T (p.Phe797=)	EFCAB13	Single nucleotide variant (synonymous variant)	EFCAB13-related disorder	GBenign
Select item 3038058	NM_152347.5(EFCAB13):c.2415C>T (p.Asn805=)	EFCAB13	Single nucleotide variant (synonymous variant)	EFCAB13-related disorder	GBenign
Select item 2306416	NM_152347.5(EFCAB13):c.2498C>T (p.Thr833Ile)	EFCAB13 (T737I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391141	NM_152347.5(EFCAB13):c.2660A>G (p.Gln887Arg)	EFCAB13 (Q887R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034231	NM_152347.5(EFCAB13):c.2682C>T (p.Ser894=)	EFCAB13	Single nucleotide variant (synonymous variant)	EFCAB13-related disorder	GBenign
Select item 2481953	NM_152347.5(EFCAB13):c.2738G>T (p.Cys913Phe)	EFCAB13 (C913F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525839	NM_152347.5(EFCAB13):c.2768A>T (p.Tyr923Phe)	EFCAB13 (Y923F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087409	NM_152347.5(EFCAB13):c.2792C>T (p.Ser931Leu)	EFCAB13 (S931L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274608	NM_152347.5(EFCAB13):c.2827A>C (p.Asn943His)	EFCAB13 (N943H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037456	NM_152347.5(EFCAB13):c.2904C>T (p.Asn968=)	EFCAB13	Single nucleotide variant (synonymous variant)	EFCAB13-related disorder	GBenign
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2506553	GRCh37/hg19 17q21.32(chr17:44949883-46507482)	CBX1, CDC27 +24 more	Copy number gain	PNPO-related disorder	GLikely pathogenic
Select item 564450	GRCh37/hg19 17q21.32(chr17:45307927-45447839)x1	ITGB3, EFCAB13	Copy number loss	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394305	GRCh37/hg19 17q21.32(chr17:45481907-45567563)x1	EFCAB13	Copy number loss	See cases	GBenign
Select item 221347	chr17:45008570..45994044 complex variant	CDC27, EFCAB13 +14 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 80