ClinVar for MedGen (Select 934710) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362731	NM_018052.5(VAC14):c.412G>A (p.Gly138Arg)	VAC14 (G138R)	Single nucleotide variant (5 prime UTR variant +1 more)	Striatonigral degeneration, childhood-onset	GUncertain significance
Select item 2664898	NM_018052.5(VAC14):c.921C>A (p.Cys307Ter)	VAC14 (C307* +1 more)	Single nucleotide variant (nonsense)	Striatonigral degeneration, childhood-onset	GLikely pathogenic
Select item 2438507	NM_018052.5(VAC14):c.1063G>A (p.Asp355Asn)	VAC14 (D121N +1 more)	Single nucleotide variant (missense variant)	Striatonigral degeneration, childhood-onset	GUncertain significance
Select item 2438506	NM_018052.5(VAC14):c.1339C>G (p.Leu447Val)	VAC14, VAC14-AS1 (L213V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1805191	NM_018052.5(VAC14):c.104+2T>G	VAC14	Single nucleotide variant (splice donor variant)	Striatonigral degeneration, childhood-onset	GLikely pathogenic
Select item 1339182	NM_018052.5(VAC14):c.1867C>T (p.Arg623Cys)	VAC14 (R389C +1 more)	Single nucleotide variant (missense variant)	Striatonigral degeneration, childhood-onset +1 more	GUncertain significance
Select item 1332727	NM_018052.5(VAC14):c.1927C>T (p.Arg643Trp)	VAC14 (R409W +1 more)	Single nucleotide variant (missense variant)	Striatonigral degeneration, childhood-onset	GUncertain significance
Select item 1276596	NM_018052.5(VAC14):c.1662-47C>G	VAC14	Single nucleotide variant (intron variant)	Striatonigral degeneration, childhood-onset +1 more	GBenign
Select item 1269382	NM_018052.5(VAC14):c.1306-7C>T	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1260691	NM_018052.5(VAC14):c.811+43G>A	VAC14	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1235270	NM_018052.5(VAC14):c.2115G>T (p.Pro705=)	VAC14	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1221543	NM_018052.5(VAC14):c.424-18T>C	VAC14	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1183222	NM_018052.5(VAC14):c.1306-27G>A	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1032018	NM_018052.5(VAC14):c.1723C>T (p.Arg575Trp)	VAC14 (R575W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1030622	NM_018052.5(VAC14):c.2015T>C (p.Ile672Thr)	VAC14 (I438T +1 more)	Single nucleotide variant (missense variant)	Striatonigral degeneration, childhood-onset	GUncertain significance
Select item 638191	NM_018052.5(VAC14):c.2005G>T (p.Val669Leu)	VAC14 (V669L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 253143	NM_018052.5(VAC14):c.1748C>T (p.Ser583Leu)	VAC14 (S583L +1 more)	Single nucleotide variant (missense variant)	Striatonigral degeneration, childhood-onset	GPathogenic
Select item 253142	NM_018052.5(VAC14):c.1744G>T (p.Ala582Ser)	VAC14 (A582S +1 more)	Single nucleotide variant (missense variant)	Striatonigral degeneration, childhood-onset	GPathogenic
Select item 253141	NM_018052.5(VAC14):c.1528+1G>A	VAC14	Single nucleotide variant (splice donor variant)	Striatonigral degeneration, childhood-onset	GPathogenic
Select item 253140	NM_018052.5(VAC14):c.1271G>T (p.Trp424Leu)	VAC14, VAC14-AS1 (W424L +1 more)	Single nucleotide variant (missense variant)	Striatonigral degeneration, childhood-onset	GPathogenic

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Items: 20