"Ambry Genetics"[submitter] AND "LOC129937752"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2376832	NM_001303264.2(TSC22D2):c.317G>T (p.Gly106Val)	LOC129937752, TSC22D2 (G106V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608862	NM_001303264.2(TSC22D2):c.337G>T (p.Val113Leu)	TSC22D2, LOC129937752 (V113L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405600	NM_001303264.2(TSC22D2):c.337G>C (p.Val113Leu)	LOC129937752, TSC22D2 (V113L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217374	NM_001303264.2(TSC22D2):c.353C>A (p.Ala118Asp)	LOC129937752, TSC22D2 (A118D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367157	NM_001303264.2(TSC22D2):c.391C>G (p.Pro131Ala)	LOC129937752, TSC22D2 (P131A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225734	NM_001303264.2(TSC22D2):c.414G>C (p.Gln138His)	LOC129937752, TSC22D2 (Q138H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar