EFCAB14[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
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 3274615	NM_014774.3(EFCAB14):c.1177G>A (p.Ala393Thr)	EFCAB14, EFCAB14-AS1 (A393T)	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 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 3274614	NM_014774.3(EFCAB14):c.885G>C (p.Met295Ile)	EFCAB14, EFCAB14-AS1 (M295I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274610	NM_014774.3(EFCAB14):c.868C>T (p.Leu290Phe)	EFCAB14, EFCAB14-AS1 (L290F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2273643	NM_014774.3(EFCAB14):c.650A>T (p.Asp217Val)	EFCAB14, EFCAB14-AS1 (D217V)	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 3274612	NM_014774.3(EFCAB14):c.569G>A (p.Gly190Glu)	EFCAB14 (G190E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461360	NM_014774.3(EFCAB14):c.454A>G (p.Ile152Val)	EFCAB14 (I152V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485918	NM_014774.3(EFCAB14):c.448G>C (p.Val150Leu)	EFCAB14 (V150L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209114	NM_014774.3(EFCAB14):c.260C>T (p.Ala87Val)	EFCAB14 (A87V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087418	NM_014774.3(EFCAB14):c.194A>G (p.Tyr65Cys)	EFCAB14 (Y65C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087417	NM_014774.3(EFCAB14):c.168T>G (p.Asn56Lys)	EFCAB14 (N56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087416	NM_014774.3(EFCAB14):c.161T>C (p.Val54Ala)	EFCAB14 (V54A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609243	NM_014774.3(EFCAB14):c.110C>T (p.Pro37Leu)	EFCAB14 (P37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274613	NM_014774.3(EFCAB14):c.100A>C (p.Thr34Pro)	EFCAB14 (T34P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568933	NM_014774.3(EFCAB14):c.98G>T (p.Arg33Leu)	EFCAB14 (R33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274611	NM_014774.3(EFCAB14):c.68A>G (p.Lys23Arg)	EFCAB14 (K23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 816515	GRCh37/hg19 1p34.1-33(chr1:46768408-47174149)x3	UQCRH, DMBX1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395564	GRCh37/hg19 1p34.1-33(chr1:46747177-47280720)x3	ATPAF1, CYP4B1 +10 more	Copy number gain	See cases	GUncertain significance

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Items: 33