ClinVar (all) for Orgtrack (Select 505459) - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338640	NM_000316.3(PTH1R):c.1405G>A (p.Glu469Lys)	PTH1R (E469K)	Single nucleotide variant (missense variant)	Brachydactyly type E1	GLikely pathogenic
Select item 3235096	NM_002226.5(JAG2):c.2350C>T (p.Arg784Cys)	JAG2 (R746C +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 27	GUncertain significance
Select item 3235095	NM_002226.5(JAG2):c.703T>C (p.Trp235Arg)	JAG2 (W235R)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 27	GUncertain significance
Select item 3235094	NM_002226.5(JAG2):c.1021G>T (p.Gly341Cys)	JAG2 (G341C)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 27	GUncertain significance
Select item 3024350	NM_020647.4(JPH1):c.1510del (p.Glu504fs)	JPH1 (E504fs)	Deletion (frameshift variant)	Congenital myopathy	GPathogenic
Select item 2683804	NM_020647.4(JPH1):c.1738del (p.Leu580fs)	JPH1 (L580fs)	Deletion (frameshift variant)	Congenital myopathy	GLikely pathogenic
Select item 2683803	NM_020647.4(JPH1):c.354C>A (p.Tyr118Ter)	JPH1 (Y118*)	Single nucleotide variant (nonsense)	Congenital myopathy	GLikely pathogenic
Select item 2683802	NM_020647.4(JPH1):c.373del (p.Asp125fs)	JPH1 (D125fs)	Deletion (frameshift variant)	Congenital myopathy	GLikely pathogenic
Select item 2683801	NM_031157.4(HNRNPA1):c.1113_*2delinsTAA (p.Arg371_Ter373delinsSerXaa)	HNRNPA1	Indel (stop lost +1 more)	Distal myopathy	GLikely pathogenic
Select item 2582826	NM_001100.4(ACTA1):c.772C>G (p.Arg258Gly)	ACTA1 (R258G)	Single nucleotide variant (missense variant)	Congenital myopathy +1 more	GLikely pathogenic
Select item 2582825	NM_001100.4(ACTA1):c.1119C>G (p.His373Gln)	ACTA1 (H373Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2582824	NM_001100.4(ACTA1):c.1125A>C (p.Lys375Asn)	ACTA1 (K375N)	Single nucleotide variant (missense variant)	Nemaline myopathy	GLikely pathogenic
Select item 2582823	NM_001100.4(ACTA1):c.113G>C (p.Gly38Ala)	ACTA1 (G38A)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GPathogenic
Select item 2582822	NM_001100.4(ACTA1):c.130-5T>A	ACTA1	Single nucleotide variant (intron variant)	Nemaline myopathy	GUncertain significance
Select item 2582821	NM_001100.4(ACTA1):c.210G>A (p.Lys70=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GUncertain significance
Select item 2582820	NM_001100.4(ACTA1):c.627G>C (p.Glu209Asp)	ACTA1 (E209D)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2582819	NM_001100.4(ACTA1):c.630C>G (p.Ile210Met)	ACTA1 (I210M)	Single nucleotide variant (missense variant)	Myopathy	GUncertain significance
Select item 2582818	NM_001100.4(ACTA1):c.834G>T (p.Glu278Asp)	ACTA1 (E278D)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 2582817	NM_001100.4(ACTA1):c.889G>A (p.Ala297Thr)	ACTA1 (A297T)	Single nucleotide variant (missense variant)	Myopathy	GPathogenic
Select item 2582816	NM_001100.4(ACTA1):c.1106C>A (p.Pro369His)	ACTA1 (P369H)	Single nucleotide variant (missense variant)	Myopathy	GUncertain significance
Select item 2582815	NM_001100.4(ACTA1):c.143G>C (p.Gly48Ala)	ACTA1 (G48A)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion	GLikely pathogenic
Select item 2582814	NM_001100.4(ACTA1):c.317T>C (p.Leu106Pro)	ACTA1 (L106P)	Single nucleotide variant (missense variant)	Neuromuscular disease	GLikely pathogenic
Select item 2582813	NM_001100.4(ACTA1):c.327G>C (p.Glu109Asp)	ACTA1 (E109D)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 2582812	NM_001100.4(ACTA1):c.449C>T (p.Thr150Ile)	ACTA1 (T150I)	Single nucleotide variant (missense variant)	Intranuclear rod myopathy	GUncertain significance
Select item 2582811	NM_001100.4(ACTA1):c.440C>A (p.Ser147Tyr)	ACTA1 (S147Y)	Single nucleotide variant (missense variant)	Fetal akinesia +1 more	GPathogenic/Likely pathogenic
Select item 2582810	NM_001100.4(ACTA1):c.440C>T (p.Ser147Phe)	ACTA1 (S147F)	Single nucleotide variant (missense variant)	Actin accumulation myopathy +1 more	GPathogenic/Likely pathogenic
Select item 2582809	NM_001100.4(ACTA1):c.443G>T (p.Gly148Val)	ACTA1 (G148V)	Single nucleotide variant (missense variant)	Nemaline myopathy +1 more	GLikely pathogenic
Select item 2582808	NM_001100.4(ACTA1):c.616+2T>C	ACTA1	Single nucleotide variant (splice donor variant)	Neuromuscular disease	GLikely pathogenic
Select item 2582807	NM_001100.4(ACTA1):c.854T>G (p.Met285Arg)	ACTA1 (M285R)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GPathogenic
Select item 2582806	NM_001100.4(ACTA1):c.868G>A (p.Asp290Asn)	ACTA1 (D290N)	Single nucleotide variant (missense variant)	Nemaline myopathy	GPathogenic
Select item 2582805	NM_001100.4(ACTA1):c.925C>T (p.Pro309Ser)	ACTA1 (P309S)	Single nucleotide variant (missense variant)	Congenital myopathy	GLikely pathogenic
Select item 2582804	NM_001100.4(ACTA1):c.89G>A (p.Arg30Lys)	ACTA1 (R30K)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 2582803	NM_001100.4(ACTA1):c.122G>T (p.Arg41Leu)	ACTA1 (R41L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2582802	NM_001100.4(ACTA1):c.239A>C (p.Asn80Thr)	ACTA1 (N80T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2582801	NM_001100.4(ACTA1):c.364A>C (p.Thr122Pro)	ACTA1 (T122P)	Single nucleotide variant (missense variant)	Myopathy	GLikely pathogenic
Select item 2582800	NM_001100.4(ACTA1):c.506A>G (p.Glu169Gly)	ACTA1 (E169G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2582799	NM_001100.4(ACTA1):c.541G>C (p.Asp181His)	ACTA1 (D181H)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GPathogenic
Select item 2582798	NM_001100.4(ACTA1):c.556G>C (p.Asp186His)	ACTA1 (D186H)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 2582797	NM_001100.4(ACTA1):c.586A>C (p.Thr196Pro)	ACTA1 (T196P)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 2582796	NM_001100.4(ACTA1):c.723C>A (p.Ser241Arg)	ACTA1 (S241R)	Single nucleotide variant (missense variant)	Neuromuscular disease	GLikely pathogenic
Select item 2582795	NM_001100.4(ACTA1):c.766C>G (p.Arg256Gly)	ACTA1 (R256G)	Single nucleotide variant (missense variant)	Congenital myopathy +1 more	GLikely pathogenic
Select item 2582794	NM_001100.4(ACTA1):c.880G>T (p.Asp294Tyr)	ACTA1 (D294Y)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 2582036	NM_001100.4(ACTA1):c.175G>A (p.Glu59Lys)	ACTA1 (E59K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2580368	NM_001098272.3(HMGCS1):c.209T>C (p.Met70Thr)	HMGCS1 (M70T)	Single nucleotide variant (missense variant)	Rigid spine syndrome	GPathogenic
Select item 2580367	NM_001098272.3(HMGCS1):c.803G>C (p.Cys268Ser)	HMGCS1 (C226S +1 more)	Single nucleotide variant (missense variant)	Rigid spine syndrome	GPathogenic
Select item 2580366	NM_001098272.3(HMGCS1):c.890G>T (p.Gly297Val)	HMGCS1 (G255V +1 more)	Single nucleotide variant (missense variant)	Rigid spine syndrome	GPathogenic
Select item 2580365	NM_001098272.3(HMGCS1):c.1289G>A (p.Arg430Lys)	HMGCS1 (R388K +1 more)	Single nucleotide variant (missense variant)	Rigid spine syndrome	GPathogenic
Select item 2580364	NM_001098272.3(HMGCS1):c.344_345del (p.Ser115fs)	HMGCS1 (S115fs)	Deletion (frameshift variant)	Rigid spine syndrome	GPathogenic
Select item 2580363	NM_001098272.3(HMGCS1):c.86A>T (p.Gln29Leu)	HMGCS1 (Q29L)	Single nucleotide variant (missense variant)	Rigid spine syndrome	GPathogenic
Select item 2580362	NM_001098272.3(HMGCS1):c.1339T>C (p.Ser447Pro)	HMGCS1 (S405P +1 more)	Single nucleotide variant (missense variant)	Rigid spine syndrome	GPathogenic
Select item 2580154	NM_032525.3(TUBB6):c.1153T>A (p.Phe385Ile)	TUBB6 (F239I +4 more)	Single nucleotide variant (missense variant +1 more)	Ptosis	GLikely pathogenic
Select item 617634	NM_005368.3(MB):c.292C>T (p.His98Tyr)	MB (H98Y +1 more)	Single nucleotide variant (missense variant)	Myopathy, sarcoplasmic body	GPathogenic
Select item 192349	NM_198569.3(ADGRG6):c.2306T>A (p.Val769Glu)	ADGRG6 (V769E)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GPathogenic/Likely pathogenic
Select item 192348	NM_198569.3(ADGRG6):c.2144dup (p.Gln716fs)	ADGRG6 (Q688fs +1 more)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita	GPathogenic
Select item 192347	NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter)	ADGRG6 (R7*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita	GPathogenic

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Items: 55