"PreventionGenetics, part of Exact Sciences"[submitter] AND "NPR2"[gen - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193262	NM_003995.4(NPR2):c.64G>T (p.Ala22Ser)	NPR2 (A22S)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +4 more	GConflicting classifications of pathogenicity
Select item 2187203	NM_003995.4(NPR2):c.787C>T (p.Arg263Cys)	NPR2 (R263C)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GUncertain significance
Select item 2635131	NM_003995.4(NPR2):c.945A>G (p.Ile315Met)	NPR2 (I315M)	Single nucleotide variant (missense variant)	NPR2-related disorder	GUncertain significance
Select item 772262	NM_003995.4(NPR2):c.1351+10T>C	NPR2	Single nucleotide variant (intron variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3031365	NM_003995.4(NPR2):c.1436+1G>T	NPR2	Single nucleotide variant (splice donor variant)	NPR2-related disorder	GPathogenic
Select item 366786	NM_003995.4(NPR2):c.1644C>T (p.Val548=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GConflicting classifications of pathogenicity
Select item 3030423	NM_003995.4(NPR2):c.1707A>G (p.Lys569=)	NPR2	Single nucleotide variant (synonymous variant)	NPR2-related disorder	GLikely benign
Select item 1683473	NM_003995.4(NPR2):c.1924C>T (p.His642Tyr)	NPR2 (H642Y +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GConflicting classifications of pathogenicity
Select item 760980	NM_003995.4(NPR2):c.2105T>A (p.Met702Lys)	NPR2 (M702K +1 more)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +2 more	GLikely benign
Select item 772450	NM_003995.4(NPR2):c.2359C>T (p.Arg787Trp)	NPR2 (R787W +1 more)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +2 more	GBenign/Likely benign
Select item 2070658	NM_003995.4(NPR2):c.2520-3T>C	NPR2	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GConflicting classifications of pathogenicity
Select item 2924854	NM_003995.4(NPR2):c.2901T>G (p.Ala967=)	NPR2, SPAG8	Single nucleotide variant (synonymous variant +1 more)	NPR2-related disorder +2 more	GBenign/Likely benign