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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220948	NM_001097577.3(ANG):c.36C>T (p.Phe12=)	ANG, EGILA +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2265845	NM_001097577.3(ANG):c.96C>A (p.His32Gln)	ANG, EGILA +1 more (H32Q)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 312773	NM_001097577.3(ANG):c.99C>T (p.Phe33=)	ANG, EGILA +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1730747	NM_001097577.3(ANG):c.113A>G (p.Tyr38Cys)	RNASE4, ANG +1 more (Y38C)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2212376	NM_001097577.3(ANG):c.129G>C (p.Gln43His)	RNASE4, ANG +1 more (Q43H)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GUncertain significance
Select item 1256595	NM_001097577.3(ANG):c.132C>T (p.Gly44=)	EGILA, RNASE4 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 446824	NM_001097577.3(ANG):c.170G>C (p.Arg57Pro)	ANG, EGILA +1 more (R57P)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3293963	NM_001097577.3(ANG):c.171G>A (p.Arg57=)	ANG, EGILA +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1786220	NM_001097577.3(ANG):c.211C>A (p.His71Asn)	ANG, EGILA +1 more (H71N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3118056	NM_001097577.3(ANG):c.223C>G (p.Arg75Gly)	ANG, EGILA +1 more (R75G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2253962	NM_001097577.3(ANG):c.253A>C (p.Asn85His)	ANG, EGILA +1 more (N85H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 257559	NM_001097577.3(ANG):c.330T>G (p.Gly110=)	ANG, EGILA +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 2322998	NM_001097577.3(ANG):c.359C>A (p.Ala120Asp)	ANG, EGILA +1 more (A120D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1344517	NM_001097577.3(ANG):c.368G>C (p.Gly123Ala)	ANG, EGILA +1 more (G123A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 225053	NM_001097577.3(ANG):c.406C>T (p.Pro136Ser)	RNASE4, ANG +1 more (P136S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance