Related gene-specific medical variations for Gene (Select 100507600) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2997205	NM_002299.4(LCT):c.986+19T>C	LCT, LCT-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2869491	NM_002299.4(LCT):c.986+16del	LCT, LCT-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2867970	NM_002299.4(LCT):c.913A>T (p.Asn305Tyr)	LCT, LCT-AS1 (N305Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2817012	NM_002299.4(LCT):c.972A>G (p.Ser324=)	LCT, LCT-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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
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 1663280	NM_002299.4(LCT):c.986+20T>G	LCT, LCT-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1649039	NM_002299.4(LCT):c.986+12T>C	LCT, LCT-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1583161	NM_002299.4(LCT):c.966T>C (p.Cys322=)	LCT, LCT-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1402404	NM_002299.4(LCT):c.948T>G (p.Ile316Met)	LCT, LCT-AS1 (I316M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 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 1251276	NM_002299.4(LCT):c.986+180T>C	LCT, LCT-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign