"Ambry Genetics"[submitter] AND "LCT-AS1"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1357255	NM_002299.4(LCT):c.935T>C (p.Ile312Thr)	LCT, LCT-AS1 (I312T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1947053	NM_002299.4(LCT):c.925G>A (p.Val309Met)	LCT, LCT-AS1 (V309M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1373814	NM_002299.4(LCT):c.919G>A (p.Asp307Asn)	LCT, LCT-AS1 (D307N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2189854	NM_002299.4(LCT):c.914A>G (p.Asn305Ser)	LCT, LCT-AS1 (N305S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance

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