"Ambry Genetics"[submitter] AND "ENTR1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2594931	NM_001039707.2(ENTR1):c.1271G>C (p.Arg424Thr)	ENTR1 (R351T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474638	NM_001039707.2(ENTR1):c.1147A>G (p.Asn383Asp)	ENTR1 (N383D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522625	NM_001039707.2(ENTR1):c.1118A>C (p.Gln373Pro)	ENTR1 (Q373P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465727	NM_001039707.2(ENTR1):c.1114G>A (p.Gly372Ser)	ENTR1 (G372S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511467	NM_001039707.2(ENTR1):c.1082A>G (p.Asn361Ser)	ENTR1 (N338S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479841	NM_001039707.2(ENTR1):c.932T>C (p.Ile311Thr)	ENTR1, LOC130003006 (I238T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555361	NM_001039707.2(ENTR1):c.715G>A (p.Val239Met)	ENTR1 (V166M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599103	NM_001039707.2(ENTR1):c.352A>G (p.Lys118Glu)	ENTR1 (K95E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482303	NM_001039707.2(ENTR1):c.237G>T (p.Lys79Asn)	ENTR1 (K79N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance