"GeneDx"[submitter] AND "LOC117125587"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 60270	GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3	CALR, DAND5 +67 more	Copy number gain	See cases	GUncertain significance
Select item 3367876	NM_014975.3(MAST1):c.519_548del (p.Asn173_Tyr182del)	LOC117125587, MAST1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2429720	NM_014975.3(MAST1):c.545A>G (p.Tyr182Cys)	MAST1, LOC117125587 (Y182C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412997	NM_014975.3(MAST1):c.548A>G (p.Lys183Arg)	LOC117125587, MAST1 (K183R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1236553	NM_014975.3(MAST1):c.600T>C (p.Phe200=)	LOC117125587, MAST1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2506697	NM_014975.3(MAST1):c.625G>C (p.Val209Leu)	LOC117125587, MAST1 (V209L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375646	NM_014975.3(MAST1):c.688G>T (p.Asp230Tyr)	LOC117125587, MAST1 (D230Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377973	NM_014975.3(MAST1):c.753C>A (p.Asn251Lys)	LOC117125587, MAST1 (N251K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance