LOC129996212[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 2320958	NM_006703.4(NUDT3):c.65C>G (p.Ala22Gly)	LOC129996212, NUDT3 +1 more (A22G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202815	NM_006703.4(NUDT3):c.17C>T (p.Ser6Leu)	LOC129996212, NUDT3 +1 more (S6L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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