ClinVar (all) for Orgtrack (Select 506576) - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 929439	NM_001159773.2(CANT1):c.739T>C (p.Trp247Arg)	CANT1 (W247R)	Single nucleotide variant (missense variant)	Joint dislocation +1 more	GLikely pathogenic
Select item 929438	NM_004750.5(CRLF1):c.531G>A (p.Trp177Ter)	CRLF1 (W177*)	Single nucleotide variant (nonsense)	Cold-induced sweating syndrome 1	GPathogenic
Select item 929437	NM_004750.5(CRLF1):c.935G>T (p.Arg312Leu)	CRLF1 (R312L)	Single nucleotide variant (missense variant)	Cold-induced sweating syndrome 1	GLikely pathogenic
Select item 929436	NM_014780.5(CUL7):c.418_419del (p.Thr140fs)	CUL7 (T140fs)	Microsatellite (frameshift variant)	3M syndrome 1	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 873149	NM_003995.4(NPR2):c.873+3A>G	NPR2	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
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 873147	NM_003995.4(NPR2):c.2143C>T (p.Gln715Ter)	NPR2 (Q715*)	Single nucleotide variant (nonsense)	Acromesomelic dysplasia 1, Maroteaux type	GPathogenic
Select item 873146	NM_003995.4(NPR2):c.748del (p.Tyr250fs)	NPR2 (Y250fs)	Deletion (frameshift variant)	Acromesomelic dysplasia 1, Maroteaux type	GPathogenic
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 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 873132	NM_003995.4(NPR2):c.1887+2T>A	NPR2	Single nucleotide variant (splice donor variant)	Acromesomelic dysplasia 1, Maroteaux type	GPathogenic
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
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 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 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 873127	NM_003995.4(NPR2):c.2720C>T (p.Thr907Met)	NPR2, SPAG8 (T907M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
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 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 870612	NM_003995.4(NPR2):c.14C>A (p.Ser5Ter)	NPR2 (S5*)	Single nucleotide variant (nonsense)	Acromesomelic dysplasia 1, Maroteaux type	GPathogenic
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 870136	NM_130466.4(UBE3B):c.556C>T (p.Arg186Ter)	UBE3B (R186*)	Single nucleotide variant (nonsense)	Oculocerebrofacial syndrome, Kaufman type	GPathogenic
Select item 834081	NM_021625.5(TRPV4):c.2391G>C (p.Glu797Asp)	TRPV4 (E690D +4 more)	Single nucleotide variant (missense variant)	Metatropic dysplasia	GLikely pathogenic
Select item 632582	NM_001849.4(COL6A2):c.2875G>A (p.Glu959Lys)	COL6A2 (E959K)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 632550	NM_025000.4(DCAF17):c.270dup (p.Cys91fs)	DCAF17 (C91fs)	Duplication (frameshift variant +1 more)	Woodhouse-Sakati syndrome	GLikely pathogenic
Select item 617460	NM_018238.4(AGK):c.1215dup (p.Phe406fs)	AGK (F406fs)	Duplication (frameshift variant)	Sengers syndrome	GLikely pathogenic
Select item 599273	NM_014780.5(CUL7):c.3089del (p.Pro1030fs)	CUL7 (P1030fs +1 more)	Deletion (frameshift variant)	3M syndrome 1	GLikely pathogenic
Select item 599272	NM_014780.5(CUL7):c.4115del (p.Glu1372fs)	CUL7 (E1372fs +2 more)	Deletion (frameshift variant)	3M syndrome 1	GLikely pathogenic
Select item 599223	NM_015311.3(OBSL1):c.1125dup (p.Glu376Ter)	OBSL1 (E376*)	Duplication (nonsense)	3M syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 599222	NM_015311.3(OBSL1):c.1187G>A (p.Arg396His)	OBSL1 (R396H)	Single nucleotide variant (missense variant)	3M syndrome 1	GLikely pathogenic
Select item 599221	NM_015311.3(OBSL1):c.1277_1282+5del	OBSL1	Deletion (splice donor variant)	3M syndrome 1	GLikely pathogenic
Select item 599220	NM_001034852.3(SMOC1):c.223C>T (p.Arg75Ter)	SMOC1 (R75*)	Single nucleotide variant (nonsense)	Microphthalmia with limb anomalies	GLikely pathogenic
Select item 599218	NM_014780.5(CUL7):c.206dup (p.Met69fs)	CUL7 (M69fs)	Duplication (frameshift variant)	3M syndrome 1	GLikely pathogenic
Select item 599185	NM_014780.5(CUL7):c.1482G>A (p.Trp494Ter)	CUL7 (W494* +1 more)	Single nucleotide variant (nonsense)	3M syndrome 1	GLikely pathogenic
Select item 599184	NM_014780.5(CUL7):c.3685C>T (p.Gln1229Ter)	CUL7 (Q1229* +2 more)	Single nucleotide variant (nonsense)	3M syndrome 1	GLikely pathogenic
Select item 548446	NM_022167.4(XYLT2):c.2548G>A (p.Asp850Asn)	XYLT2 (D850N)	Single nucleotide variant (missense variant +1 more)	Spondylo-ocular syndrome	GLikely pathogenic
Select item 522597	NM_001189.4(NKX3-2):c.507_508del (p.Gly171fs)	NKX3-2 (G171fs)	Deletion (frameshift variant)	Spondylo-megaepiphyseal-metaphyseal dysplasia	GPathogenic/Likely pathogenic
Select item 522596	NM_033419.5(PGAP3):c.507C>A (p.Tyr169Ter)	PGAP3 (Y118* +2 more)	Single nucleotide variant (nonsense +1 more)	Hyperphosphatasia with intellectual disability syndrome 4	GPathogenic/Likely pathogenic
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 17787	NM_003995.4(NPR2):c.1162C>T (p.Arg388Ter)	NPR2 (R388*)	Single nucleotide variant (nonsense)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GPathogenic

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Items: 40