C5193025[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 692180	NM_020702.5(MYORG):c.1979T>A (p.Leu660Gln)	MYORG (L660Q)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GUncertain significance
Select item 692177	NM_020702.5(MYORG):c.1967T>C (p.Ile656Thr)	MYORG (I656T)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 7, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 692175	NM_020702.5(MYORG):c.1865T>C (p.Leu622Pro)	MYORG (L622P)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GUncertain significance
Select item 692183	NM_020702.5(MYORG):c.1831C>T (p.Arg611Trp)	MYORG (R611W)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GUncertain significance
Select item 692171	NM_020702.5(MYORG):c.1431C>A (p.Tyr477Ter)	MYORG (Y477*)	Single nucleotide variant (nonsense)	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GLikely pathogenic
Select item 692178	NM_020702.5(MYORG):c.1427C>A (p.Thr476Asn)	MYORG (T476N)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 7, autosomal recessive +1 more	GUncertain significance
Select item 617694	NM_020702.5(MYORG):c.1333C>T (p.Gln445Ter)	MYORG (Q445*)	Single nucleotide variant (nonsense)	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GLikely pathogenic
Select item 692168	NM_020702.5(MYORG):c.1328G>A (p.Trp443Ter)	MYORG (W443*)	Single nucleotide variant (nonsense)	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GLikely pathogenic
Select item 617690	NM_020702.5(MYORG):c.1321C>G (p.Arg441Gly)	MYORG (R441G)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GLikely pathogenic
Select item 692179	NM_020702.5(MYORG):c.1300G>C (p.Asp434His)	MYORG (D434H)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GUncertain significance
Select item 692174	NM_020702.5(MYORG):c.1118C>A (p.Ala373Asp)	MYORG (A373D)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GUncertain significance
Select item 692185	NM_020702.5(MYORG):c.1086CTTCGA[1] (p.363FD[1])	MYORG	Microsatellite (inframe_deletion)	Basal ganglia calcification, idiopathic, 7, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 617696	NM_020702.5(MYORG):c.1057GAC[1] (p.Asp354del)	MYORG (D354del)	Microsatellite (inframe_deletion)	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GUncertain significance
Select item 617693	NM_020702.5(MYORG):c.782_783delinsTT	MYORG	Indel	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GUncertain significance
Select item 692181	NM_020702.5(MYORG):c.747G>C (p.Trp249Cys)	MYORG (W249C)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GUncertain significance
Select item 617691	NM_020702.5(MYORG):c.695C>T (p.Ser232Leu)	MYORG (S232L)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GUncertain significance
Select item 692170	NM_020702.5(MYORG):c.687G>C (p.Trp229Cys)	MYORG (W229C)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GUncertain significance
Select item 617692	NM_020702.5(MYORG):c.607C>T (p.Gln203Ter)	MYORG (Q203*)	Single nucleotide variant (nonsense)	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GLikely pathogenic
Select item 692169	NM_020702.5(MYORG):c.428_442del (p.Leu143_Ile147del)	MYORG	Deletion (inframe_deletion)	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GUncertain significance
Select item 692182	NM_020702.5(MYORG):c.337_348dup (p.Leu113_Arg116dup)	MYORG	Duplication (inframe_insertion)	Basal ganglia calcification, idiopathic, 7, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 692176	NM_020702.5(MYORG):c.338T>G (p.Leu113Arg)	MYORG (L113R)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GUncertain significance
Select item 617689	NM_020702.5(MYORG):c.225G>A (p.Trp75Ter)	MYORG (W75*)	Single nucleotide variant (nonsense)	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GPathogenic
Select item 692184	NM_020702.5(MYORG):c.191G>A (p.Gly64Glu)	MYORG (G64E)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GUncertain significance
Select item 692186	NM_020702.5(MYORG):c.103A>G (p.Met35Val)	MYORG (M35V)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 7, autosomal recessive	GLikely pathogenic

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Items: 24