"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137964	NM_002230.4(JUP):c.*21C>A	JUP	Single nucleotide variant (3 prime UTR variant +1 more)	Naxos disease +2 more	GConflicting classifications of pathogenicity
Select item 21304	NM_002230.4(JUP):c.2089A>T (p.Met697Leu)	JUP (M697L)	Single nucleotide variant (missense variant)	Naxos disease +4 more	GBenign
Select item 227449	NM_002230.4(JUP):c.2086+13C>T	JUP	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 137960	NM_002230.4(JUP):c.2025T>C (p.His675=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 391157	NM_002230.4(JUP):c.1945C>T (p.Leu649=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 45842	NM_002230.4(JUP):c.1942G>A (p.Val648Ile)	JUP (V648I)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 1284355	NM_002230.4(JUP):c.1925-19T>G	JUP	Single nucleotide variant (intron variant)	Naxos disease +1 more	GBenign
Select item 179915	NM_002230.4(JUP):c.1909C>T (p.Arg637Cys)	JUP (R637C)	Single nucleotide variant (missense variant)	Naxos disease +4 more	GConflicting classifications of pathogenicity
Select item 239105	NM_002230.4(JUP):c.1774-6C>T	JUP	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 36424	NM_002230.4(JUP):c.1774-13C>T	JUP	Single nucleotide variant (intron variant)	Naxos disease +3 more	GBenign/Likely benign
Select item 239104	NM_002230.4(JUP):c.1667T>C (p.Met556Thr)	JUP (M556T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 45838	NM_002230.4(JUP):c.1653+10C>A	JUP	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 45837	NM_002230.4(JUP):c.1563A>G (p.Ala521=)	JUP	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 45834	NM_002230.4(JUP):c.1377G>T (p.Leu459=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 163717	NM_002230.4(JUP):c.1365C>T (p.Ala455=)	JUP	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 258593	NM_002230.4(JUP):c.909+17T>C	JUP	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 36426	NM_002230.4(JUP):c.909+6C>T	JUP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 12 +5 more	GConflicting classifications of pathogenicity
Select item 1285223	NM_002230.4(JUP):c.809T>G (p.Leu270Arg)	JUP (L270R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 468758	NM_002230.4(JUP):c.654G>A (p.Gly218=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +4 more	GLikely benign
Select item 1285047	NM_002230.4(JUP):c.633C>A (p.Asn211Lys)	JUP (N211K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 468754	NM_002230.4(JUP):c.475G>T (p.Val159Leu)	JUP (V159L)	Single nucleotide variant (missense variant)	Naxos disease +4 more	GConflicting classifications of pathogenicity
Select item 449256	NM_002230.4(JUP):c.460G>A (p.Glu154Lys)	JUP (E154K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 468748	NM_002230.4(JUP):c.426C>T (p.Arg142=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +4 more	GBenign/Likely benign
Select item 45851	NM_002230.4(JUP):c.425G>A (p.Arg142His)	JUP (R142H)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 45850	NM_002230.4(JUP):c.405C>T (p.Asp135=)	JUP	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 1003551	NM_002230.4(JUP):c.374C>T (p.Ser125Leu)	JUP (S125L)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 191677	NM_002230.4(JUP):c.335A>G (p.Asn112Ser)	JUP (N112S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 45845	NM_002230.4(JUP):c.213T>C (p.Asp71=)	JUP	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign

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Items: 28