"GeneDx"[submitter] AND "LOC129993690"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59604	GRCh38/hg38 5p15.2-14.3(chr5:13609772-21930280)x1	ANKH, BASP1 +142 more	Copy number loss	See cases	GPathogenic
Select item 144888	GRCh38/hg38 5p15.2(chr5:13802199-14153452)x3	DNAH5, LOC126807318 +11 more	Copy number gain	See cases	GBenign/Likely benign
Select item 57956	GRCh38/hg38 5p15.2(chr5:13829252-14168792)x3	DNAH5, LOC126807318 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2430915	NM_007118.4(TRIO):c.143C>T (p.Ala48Val)	LOC129993690, TRIO (A48V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1205004	NM_007118.4(TRIO):c.157+142C>T	LOC129993690, TRIO	Single nucleotide variant (intron variant)	not provided	GLikely benign

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