"GeneDx"[submitter] AND "LOC126807619"[gene] - ClinVar - NCBI

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Items: 16

	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 145970	GRCh38/hg38 5q35.3(chr5:177239706-177291908)x1	LOC126807619, NSD1	Copy number loss	See cases	GPathogenic
Select item 1254638	NM_022455.5(NSD1):c.5304-48G>T	LOC126807619, NSD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 159363	NM_022455.5(NSD1):c.5309G>A (p.Trp1770Ter)	LOC126807619, NSD1 (W1770* +5 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1706120	NM_022455.5(NSD1):c.5312C>A (p.Pro1771Gln)	LOC126807619, NSD1 (P1480Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817623	NM_022455.5(NSD1):c.5342del (p.Pro1781fs)	LOC126807619, NSD1 (P1512fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1700924	NM_022455.5(NSD1):c.5422C>T (p.His1808Tyr)	LOC126807619, NSD1 (H1539Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367604	NM_022455.5(NSD1):c.5423A>T (p.His1808Leu)	LOC126807619, NSD1 (H1517L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 159369	NM_022455.5(NSD1):c.5431C>T (p.Arg1811Ter)	LOC126807619, NSD1 (R1811* +5 more)	Single nucleotide variant (nonsense)	Sotos syndrome +1 more	GPathogenic
Select item 516040	NM_022455.5(NSD1):c.5463C>T (p.Ser1821=)	LOC126807619, NSD1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 620496	NM_022455.5(NSD1):c.5502T>A (p.Tyr1834Ter)	LOC126807619, NSD1 (Y1834* +5 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic