ClinVar for Gene (Select 126805870) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3201752	NM_000906.4(NPR1):c.2195T>C (p.Ile732Thr)	LOC126805870, NPR1 (I732T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201750	NM_000906.4(NPR1):c.1952A>G (p.His651Arg)	LOC126805870, NPR1 (H651R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608594	NM_000906.4(NPR1):c.2120T>C (p.Leu707Pro)	LOC126805870, NPR1 (L707P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511138	NM_000906.4(NPR1):c.2252T>A (p.Ile751Asn)	LOC126805870, NPR1 (I751N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487757	NM_000906.4(NPR1):c.1884C>G (p.Ser628Arg)	LOC126805870, NPR1 (S628R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463553	NM_000906.4(NPR1):c.2399C>T (p.Thr800Met)	LOC126805870, NPR1 (T800M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2312625	NM_000906.4(NPR1):c.2068G>A (p.Glu690Lys)	LOC126805870, NPR1 (E690K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233359	NM_000906.4(NPR1):c.2105C>T (p.Thr702Met)	LOC126805870, NPR1 (T702M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719344	NM_000906.4(NPR1):c.2406C>T (p.Arg802=)	LOC126805870, NPR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714196	NM_000906.4(NPR1):c.2401T>C (p.Leu801=)	LOC126805870, NPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 160920	GRCh38/hg38 1q21.3(chr1:153641117-153752390)x3	CHTOP, ILF2 +11 more	Copy number gain	See cases	GUncertain significance
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 57790	GRCh38/hg38 1q21.3(chr1:153641117-153752390)x3	CHTOP, ILF2 +11 more	Copy number gain	See cases	GBenign