ClinVar for Gene (Select 121132678) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3189352	NM_025258.3(VWA7):c.994G>A (p.Ala332Thr)	LOC121132678, VWA7 (A332T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189351	NM_025258.3(VWA7):c.918G>A (p.Arg306=)	LOC121132678, VWA7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2401531	NM_025258.3(VWA7):c.1073C>T (p.Pro358Leu)	LOC121132678, VWA7 (P358L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	LOC110121220, LOC110121246 +2579 more	Copy number gain	See cases	GPathogenic

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