"GeneDx"[submitter] AND "LOC129935241"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 145813	GRCh38/hg38 2q32.2(chr2:189442378-189689554)x3	ANKAR, ASDURF +8 more	Copy number gain	See cases	GLikely benign
Select item 333179	NM_014585.5(SLC40A1):c.-312_-310dupCGG	LOC129935241, SLC40A1	Microsatellite (genic upstream transcript variant)	Hereditary hemochromatosis +1 more	GBenign

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