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

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2341546	NM_001098526.2(JAML):c.892A>C (p.Lys298Gln)	JAML (K288Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352912	NM_001098526.2(JAML):c.640C>T (p.Arg214Cys)	JAML (R204C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365143	NM_001098526.2(JAML):c.586T>A (p.Ser196Thr)	JAML (S157T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235384	NM_001098526.2(JAML):c.193G>A (p.Ala65Thr)	JAML, LOC124625850 (A26T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370642	NM_001098526.2(JAML):c.53T>C (p.Leu18Ser)	JAML, LOC124625850 (L18S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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