"EFCAB13-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3039578	NM_152347.5(EFCAB13):c.339G>A (p.Lys113=)	EFCAB13	Single nucleotide variant (synonymous variant)	EFCAB13-related disorder	GBenign
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 3059359	NM_152347.5(EFCAB13):c.631C>T (p.Arg211Ter)	EFCAB13 (R211*)	Single nucleotide variant (nonsense +1 more)	EFCAB13-related disorder	GBenign
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 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 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 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 3051249	NM_152347.5(EFCAB13):c.1032A>G (p.Gln344=)	EFCAB13	Single nucleotide variant (synonymous variant)	EFCAB13-related disorder	GLikely benign
Select item 3038638	NM_152347.5(EFCAB13):c.1143A>G (p.Gln381=)	EFCAB13	Single nucleotide variant (synonymous variant)	EFCAB13-related disorder	GBenign
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 3042531	NM_152347.5(EFCAB13):c.1530dup (p.Asp511fs)	EFCAB13 (D415fs +1 more)	Duplication (frameshift variant)	EFCAB13-related disorder	GLikely benign
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 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 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 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 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 3034231	NM_152347.5(EFCAB13):c.2682C>T (p.Ser894=)	EFCAB13	Single nucleotide variant (synonymous variant)	EFCAB13-related disorder	GBenign
Select item 3037456	NM_152347.5(EFCAB13):c.2904C>T (p.Asn968=)	EFCAB13	Single nucleotide variant (synonymous variant)	EFCAB13-related disorder	GBenign

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Items: 26