"GeneDx"[submitter] AND "LOC129388447"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 1242397	NM_001365951.3(KIF1B):c.364-63C>T	KIF1B, LOC129388447	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266483	NM_001365951.3(KIF1B):c.429+26G>A	KIF1B, LOC129388447	Single nucleotide variant (intron variant)	not specified +1 more	GBenign

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