"Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Fac - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 870612	NM_003995.4(NPR2):c.14C>A (p.Ser5Ter)	NPR2 (S5*)	Single nucleotide variant (nonsense)	Acromesomelic dysplasia 1, Maroteaux type	GPathogenic
Select item 208359	NM_003995.4(NPR2):c.328C>T (p.Arg110Cys)	NPR2 (R110C)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GConflicting classifications of pathogenicity
Select item 870611	NM_003995.4(NPR2):c.329G>A (p.Arg110His)	NPR2 (R110H)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 873134	NM_003995.4(NPR2):c.422G>A (p.Arg141His)	NPR2 (R141H)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 873080	NM_003995.4(NPR2):c.661G>A (p.Gly221Arg)	NPR2 (G221R)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 873146	NM_003995.4(NPR2):c.748del (p.Tyr250fs)	NPR2 (Y250fs)	Deletion (frameshift variant)	Acromesomelic dysplasia 1, Maroteaux type	GPathogenic
Select item 873133	NM_003995.4(NPR2):c.866C>A (p.Ala289Asp)	NPR2 (A289D)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 873149	NM_003995.4(NPR2):c.873+3A>G	NPR2	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 873130	NM_003995.4(NPR2):c.1013A>G (p.Tyr338Cys)	NPR2 (Y338C)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 17787	NM_003995.4(NPR2):c.1162C>T (p.Arg388Ter)	NPR2 (R388*)	Single nucleotide variant (nonsense)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GPathogenic
Select item 873079	NM_003995.4(NPR2):c.1163G>A (p.Arg388Gln)	NPR2 (R388Q)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GPathogenic
Select item 873150	NM_003995.4(NPR2):c.1215del (p.Gln406fs)	NPR2 (Q406fs)	Deletion (frameshift variant)	Acromesomelic dysplasia 1, Maroteaux type	GPathogenic
Select item 873128	NM_003995.4(NPR2):c.1673T>C (p.Ile558Thr)	NPR2 (I558T)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GConflicting classifications of pathogenicity
Select item 873132	NM_003995.4(NPR2):c.1887+2T>A	NPR2	Single nucleotide variant (splice donor variant)	Acromesomelic dysplasia 1, Maroteaux type	GPathogenic
Select item 873147	NM_003995.4(NPR2):c.2143C>T (p.Gln715Ter)	NPR2 (Q715*)	Single nucleotide variant (nonsense)	Acromesomelic dysplasia 1, Maroteaux type	GPathogenic
Select item 873127	NM_003995.4(NPR2):c.2720C>T (p.Thr907Met)	NPR2, SPAG8 (T907M +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature with nonspecific skeletal abnormalities +3 more	GPathogenic/Likely pathogenic
Select item 873148	NM_003995.4(NPR2):c.2870G>A (p.Arg957His)	NPR2, SPAG8 (R957H +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type	GLikely pathogenic
Select item 873129	NM_003995.4(NPR2):c.3029A>G (p.Asp1010Gly)	NPR2, SPAG8 (D1010G +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 873131	NM_003995.4(NPR2):c.3113_3115del (p.Gly1038del)	NPR2, SPAG8 (L455del +2 more)	Deletion (inframe deletion +1 more)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance