"GeneDx"[submitter] AND "LOC129995400"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 58122	GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3	FAM153A, FAM153B +176 more	Copy number gain	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 59301	GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1	LOC129995374, LOC129995375 +136 more	Copy number loss	See cases	GPathogenic
Select item 59303	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1	ARL10, B4GALT7 +134 more	Copy number loss	See cases	GPathogenic
Select item 59302	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1	ARL10, B4GALT7 +140 more	Copy number loss	See cases	GPathogenic
Select item 1297271	NC_000005.10:g.177600076CGGCGGACC[3]	B4GALT7, LOC129995400	Microsatellite	not provided	GBenign
Select item 1292364	NC_000005.10:g.177600109C>T	B4GALT7, LOC129995400	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 511171	NM_007255.3(B4GALT7):c.-36G>A	B4GALT7, LOC129995400	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 507572	NM_007255.3(B4GALT7):c.-31C>T	B4GALT7, LOC129995400	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 506362	NM_007255.3(B4GALT7):c.-28G>T	B4GALT7, LOC129995400	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 384811	NM_007255.3(B4GALT7):c.-26C>T	B4GALT7, LOC129995400	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 512363	NM_007255.3(B4GALT7):c.-17C>A	B4GALT7, LOC129995400	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 282261	NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter)	B4GALT7, LOC129995400 (W13*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1246191	NM_007255.3(B4GALT7):c.50+144T>C	B4GALT7, LOC129995400	Single nucleotide variant (intron variant)	not provided	GBenign