"Baylor Genetics"[submitter] AND "EMC1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031861	NM_015047.3(EMC1):c.2591G>T (p.Gly864Val)	EMC1, EMC1-AS1 (G842V +4 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation;	GUncertain significance
Select item 1031860	NM_015047.3(EMC1):c.2374G>C (p.Val792Leu)	EMC1, EMC1-AS1 (V770L +4 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation; +1 more	GUncertain significance
Select item 2441993	NM_015047.3(EMC1):c.2281C>A (p.Leu761Ile)	EMC1, EMC1-AS1 (L739I +4 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation;	GUncertain significance
Select item 1019129	NM_015047.3(EMC1):c.2248G>A (p.Ala750Thr)	EMC1, EMC1-AS1 (A728T +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2582469	NM_015047.3(EMC1):c.1666C>A (p.Leu556Met)	EMC1, EMC1-AS1 (L534M +4 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation;	GUncertain significance
Select item 1029345	NM_015047.3(EMC1):c.1127A>C (p.Asn376Thr)	EMC1, EMC1-AS1 (N354T +2 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation;	GUncertain significance
Select item 1003444	NM_015047.3(EMC1):c.1109A>G (p.Asn370Ser)	EMC1, EMC1-AS1 (N348S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1031859	NM_015047.3(EMC1):c.1107C>G (p.Phe369Leu)	EMC1, EMC1-AS1 (F369L +2 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation; +1 more	GUncertain significance
Select item 1312336	NM_015047.3(EMC1):c.737A>C (p.Gln246Pro)	EMC1, EMC1-AS1 (Q224P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 1312337	NM_015047.3(EMC1):c.713C>T (p.Pro238Leu)	EMC1, EMC1-AS1 (P216L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 842236	NM_015047.3(EMC1):c.305A>G (p.Asn102Ser)	EMC1 (N102S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1029344	NM_015047.3(EMC1):c.104A>G (p.Gln35Arg)	EMC1 (Q35R)	Single nucleotide variant (missense variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation; +1 more	GUncertain significance
Select item 1656043	NM_015047.3(EMC1):c.95+11G>A	EMC1	Single nucleotide variant (intron variant)	Cerebellar atrophy, visual impairment, and psychomotor retardation; +1 more	GConflicting classifications of pathogenicity