"GeneDx"[submitter] AND "LOC129992613"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 59424	GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	AASDH, ADGRL3 +100 more	Copy number loss	See cases	GPathogenic
Select item 513171	NM_018475.5(TMEM165):c.15T>C (p.Ala5=)	TMEM165, LOC129992613	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 193395	NM_018475.5(TMEM165):c.18A>G (p.Pro6=)	TMEM165, LOC129992613	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 386518	NM_018475.5(TMEM165):c.27C>G (p.Gly9=)	LOC129992613, TMEM165	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 976570	NM_018475.5(TMEM165):c.52C>A (p.Leu18Met)	TMEM165, LOC129992613 (L18M)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 682139	NM_018475.5(TMEM165):c.54G>A (p.Leu18=)	LOC129992613, TMEM165	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 511191	NM_018475.5(TMEM165):c.199C>A (p.Arg67=)	LOC129992613, TMEM165	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1325921	NM_018475.5(TMEM165):c.207+131G>A	LOC129992613, TMEM165	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1284228	NM_018475.5(TMEM165):c.207+178C>G	LOC129992613, TMEM165	Single nucleotide variant (intron variant)	not provided	GBenign