ClinVar for Gene (Select 129934054) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3455567	NM_144582.3(TEX261):c.34C>G (p.Leu12Val)	LOC129934054, TEX261 (L12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176388	NM_144582.3(TEX261):c.64G>A (p.Ala22Thr)	LOC129934054, TEX261 (A22T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176387	NM_144582.3(TEX261):c.29T>C (p.Leu10Pro)	LOC129934054, TEX261 (L10P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 144474	GRCh38/hg38 2p13.3-13.2(chr2:70709155-72346899)x3	ADD2, ANKRD53 +48 more	Copy number gain	See cases	GUncertain significance

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