ClinVar for OMIM (Select 616255) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3385377	NM_003995.4(NPR2):c.404A>G (p.His135Arg)	NPR2 (H135R)	Single nucleotide variant (missense variant)	Short stature with nonspecific skeletal abnormalities	GUncertain significance
Select item 3366928	NM_003995.4(NPR2):c.2629_2630del (p.Ser877fs)	NPR2 (S877fs +1 more)	Microsatellite (frameshift variant)	Short stature with nonspecific skeletal abnormalities	GPathogenic
Select item 3359060	NM_003995.4(NPR2):c.1655_1656del (p.His552fs)	NPR2 (H552fs +1 more)	Deletion (frameshift variant)	Short stature with nonspecific skeletal abnormalities	GLikely pathogenic
Select item 3026872	NM_003995.4(NPR2):c.601C>T (p.Gln201Ter)	NPR2 (Q201*)	Single nucleotide variant (nonsense)	Short stature with nonspecific skeletal abnormalities +1 more	GPathogenic
Select item 2578546	NM_003995.4(NPR2):c.2969T>G (p.Met990Arg)	NPR2, SPAG8 (M990R +1 more)	Single nucleotide variant (missense variant +1 more)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 2576574	NM_003995.4(NPR2):c.1218+4A>G	NPR2	Single nucleotide variant (intron variant)	Short stature with nonspecific skeletal abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 2499814	NM_003995.4(NPR2):c.2123A>G (p.Tyr708Cys)	NPR2, SPAG8 (Y708C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2444240	NM_003995.4(NPR2):c.1484G>A (p.Arg495His)	NPR2 (R495H +1 more)	Single nucleotide variant (missense variant)	Short stature with nonspecific skeletal abnormalities	GUncertain significance
Select item 1678652	NM_003995.4(NPR2):c.2842dup (p.His948fs)	NPR2, SPAG8 (H948fs +1 more)	Duplication (frameshift variant +1 more)	Short stature with nonspecific skeletal abnormalities	GPathogenic
Select item 1440810	NM_003995.4(NPR2):c.1123G>A (p.Gly375Ser)	NPR2 (G375S)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GUncertain significance
Select item 1405237	NM_003995.4(NPR2):c.1072C>T (p.Arg358Trp)	NPR2 (R358W)	Single nucleotide variant (missense variant)	Short stature with nonspecific skeletal abnormalities +2 more	GUncertain significance
Select item 1299621	NM_003995.4(NPR2):c.1670G>A (p.Arg557His)	NPR2 (R557H +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GUncertain significance
Select item 1066921	NM_003995.4(NPR2):c.1557+1G>A	NPR2	Single nucleotide variant (splice donor variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GLikely pathogenic
Select item 998027	NM_003995.4(NPR2):c.2299C>T (p.Arg767Ter)	NPR2 (R767* +1 more)	Single nucleotide variant (nonsense)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GPathogenic
Select item 997998	NM_003995.4(NPR2):c.1249C>A (p.Gln417Lys)	NPR2 (Q417K)	Single nucleotide variant (missense variant)	Short stature with nonspecific skeletal abnormalities	GLikely pathogenic
Select item 976392	NM_003995.4(NPR2):c.2246G>A (p.Arg749Gln)	NPR2 (R749Q +1 more)	Single nucleotide variant (missense variant)	Short stature with nonspecific skeletal abnormalities +2 more	GUncertain significance
Select item 951022	NM_003995.4(NPR2):c.1636A>T (p.Asn546Tyr)	NPR2 (N546Y +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GUncertain significance
Select item 931161	NM_003995.4(NPR2):c.494G>A (p.Arg165His)	NPR2 (R165H)	Single nucleotide variant (missense variant)	Short stature with nonspecific skeletal abnormalities +2 more	GUncertain significance
Select item 873127	NM_003995.4(NPR2):c.2720C>T (p.Thr907Met)	NPR2, SPAG8 (T907M +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +3 more	GPathogenic/Likely pathogenic
Select item 521609	NM_003995.4(NPR2):c.830A>G (p.Asn277Ser)	NPR2 (N277S)	Single nucleotide variant (missense variant)	Short stature with nonspecific skeletal abnormalities +3 more	GUncertain significance
Select item 375290	NM_003995.4(NPR2):c.1435C>T (p.Arg479Ter)	NPR2 (R479* +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +3 more	GPathogenic/Likely pathogenic
Select item 208360	NM_003995.4(NPR2):c.1249C>G (p.Gln417Glu)	NPR2 (Q417E)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
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 208358	NM_003995.4(NPR2):c.788G>C (p.Arg263Pro)	NPR2 (R263P)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 208357	NM_003995.4(NPR2):c.226T>C (p.Ser76Pro)	NPR2 (S76P)	Single nucleotide variant (missense variant)	Short stature with nonspecific skeletal abnormalities	GPathogenic
Select item 208356	NM_003995.4(NPR2):c.2455C>T (p.Arg819Cys)	NPR2 (R819C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 208355	NM_003995.4(NPR2):c.1092del (p.Ile364fs)	NPR2 (I364fs)	Deletion (frameshift variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GPathogenic
Select item 193262	NM_003995.4(NPR2):c.64G>T (p.Ala22Ser)	NPR2 (A22S)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +3 more	GConflicting classifications of pathogenicity

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Items: 28