LOC130063271[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 3274030	NM_020175.3(DUS3L):c.53C>T (p.Ser18Leu)	DUS3L, LOC130063271 (S18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274029	NM_020175.3(DUS3L):c.51C>A (p.Asp17Glu)	DUS3L, LOC130063271 (D17E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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