Related gene-specific medical variations for Gene (Select 9813) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3087420	NM_014774.3(EFCAB14):c.763G>C (p.Asp255His)	EFCAB14, EFCAB14-AS1 (D255H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087419	NM_014774.3(EFCAB14):c.688A>G (p.Met230Val)	EFCAB14, EFCAB14-AS1 (M230V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087415	NM_014774.3(EFCAB14):c.1367A>T (p.Tyr456Phe)	EFCAB14, EFCAB14-AS1 (Y456F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087414	NM_014774.3(EFCAB14):c.1280C>G (p.Pro427Arg)	EFCAB14, EFCAB14-AS1 (P427R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087413	NM_014774.3(EFCAB14):c.1228A>G (p.Lys410Glu)	EFCAB14, EFCAB14-AS1 (K410E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087412	NM_014774.3(EFCAB14):c.1076A>G (p.Lys359Arg)	EFCAB14, EFCAB14-AS1 (K359R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598253	NM_014774.3(EFCAB14):c.1172A>G (p.Glu391Gly)	EFCAB14, EFCAB14-AS1 (E391G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524654	NM_014774.3(EFCAB14):c.1132A>G (p.Ser378Gly)	EFCAB14, EFCAB14-AS1 (S378G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517473	NM_014774.3(EFCAB14):c.1118A>G (p.Lys373Arg)	EFCAB14, EFCAB14-AS1 (K373R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344866	NM_014774.3(EFCAB14):c.619C>A (p.Leu207Ile)	EFCAB14, EFCAB14-AS1 (L207I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2273643	NM_014774.3(EFCAB14):c.650A>T (p.Asp217Val)	EFCAB14, EFCAB14-AS1 (D217V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance