LOC129996651[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic
Select item 147999	GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4	CILK1, EFHC1 +119 more	Copy number gain	See cases	GPathogenic
Select item 1809510	GRCh38/hg38 6p12.1-11.2(chr6:55755662-55874865)x2	LINC01564, LINC03001 +88 more	Copy number loss	Orofacial cleft	GUncertain significance
Select item 3115663	NM_001003760.5(KLHL31):c.1696C>T (p.Arg566Cys)	KLHL31, LOC129996651 (R566C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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