ClinVar (all) for Orgtrack (Select 506831) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628040	NM_001384125.1(BLTP1):c.4752T>G (p.Tyr1584Ter)	BLTP1 (Y1584*)	Single nucleotide variant (nonsense)	Alkuraya-Kucinskas syndrome	GLikely pathogenic
Select item 617548	NM_000231.3(SGCG):c.247G>T (p.Glu83Ter)	SGCG (E83* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 617546	NM_003119.4(SPG7):c.2104-2A>G	SPG7	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 7	GPathogenic
Select item 617545	NM_000540.3(RYR1):c.14411A>G (p.His4804Arg)	RYR1 (H4804R +1 more)	Single nucleotide variant (missense variant)	Central core myopathy	GLikely pathogenic
Select item 617544	NM_000540.3(RYR1):c.9633C>A (p.Asn3211Lys)	RYR1 (N3211K)	Single nucleotide variant (missense variant)	Central core myopathy	GLikely pathogenic
Select item 617543	NM_001130987.2(DYSF):c.5711G>A (p.Gly1904Asp)	DYSF (G1865D +13 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 617542	NM_002739.5(PRKCG):c.1883C>T (p.Pro628Leu)	PRKCG (P628L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 617540	NM_001244710.2(GFPT1):c.50G>A (p.Arg17Gln)	GFPT1 (R17Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 617539	NM_001244710.2(GFPT1):c.408+5G>A	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely pathogenic
Select item 617538	NM_005476.7(GNE):c.445G>T (p.Ala149Ser)	GNE (A149S +2 more)	Single nucleotide variant (missense variant)	GNE myopathy	GLikely pathogenic
Select item 617537	NM_198576.4(AGRN):c.5276T>C (p.Leu1759Pro)	AGRN (L1759P +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 617535	NM_000023.4(SGCA):c.86A>T (p.His29Leu)	SGCA (H29L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely pathogenic
Select item 617534	NC_000016.10:g.55459531_55462663del	MMP2-AS1	Deletion	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 617533	NM_001130987.2(DYSF):c.4626+1G>A	DYSF	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely pathogenic
Select item 617532	Single allele	DYSF	Duplication	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely pathogenic
Select item 617531	NM_024306.5(FA2H):c.910G>A (p.Gly304Ser)	FA2H (G304S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GLikely pathogenic
Select item 617530	NM_024306.5(FA2H):c.934G>T (p.Asp312Tyr)	FA2H (D312Y)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GLikely pathogenic
Select item 553486	NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del)	SGCA	Deletion (inframe_deletion +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more	GUncertain significance
Select item 410693	NM_198253.3(TERT):c.2011C>T (p.Arg671Trp)	TERT (R671W)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +3 more	GConflicting classifications of pathogenicity
Select item 17621	NM_000070.3(CAPN3):c.550del (p.Thr184fs)	CAPN3 (T184fs)	Deletion (frameshift variant)	Elevated circulating creatine kinase concentration +24 more	GPathogenic
Select item 6685	NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)	DYSF (A914fs +7 more)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin +2 more	GPathogenic

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Items: 21