ClinVar for PMC (Select 3799916) - ClinVar

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Links from PMC

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2959017	NM_033100.4(CDHR1):c.1782+1G>A	CDHR1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2907401	NM_033100.4(CDHR1):c.1570_1592del (p.Ser524fs)	CDHR1 (S524fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2907400	NM_033100.4(CDHR1):c.438+1G>A	CDHR1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2822231	NM_033100.4(CDHR1):c.516del (p.Phe173fs)	CDHR1 (F173fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2796135	NM_033100.4(CDHR1):c.17G>A (p.Trp6Ter)	CDHR1 (W6*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2754324	NM_033100.4(CDHR1):c.862+1G>T	CDHR1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2739246	NM_033100.4(CDHR1):c.1696dup (p.Leu566fs)	CDHR1 (L566fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2699135	NM_033100.4(CDHR1):c.713del (p.Asp238fs)	CDHR1 (D238fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2427118	NC_000010.10:g.(?_85954517)_(85957612_?)del	CDHR1	Deletion	not provided	GPathogenic
Select item 2427117	NC_000010.10:g.(?_85954517)_(85955365_?)del	CDHR1	Deletion	not provided	GPathogenic
Select item 2131038	NM_033100.4(CDHR1):c.74del (p.Pro25fs)	CDHR1 (P25fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2122559	NM_033100.4(CDHR1):c.439-1G>A	CDHR1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2118979	NM_033100.4(CDHR1):c.1664dup (p.Lys556fs)	CDHR1 (K556fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2107487	NM_033100.4(CDHR1):c.1233del (p.Thr412fs)	CDHR1 (T412fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2101859	NM_033100.4(CDHR1):c.1709del (p.Asn570fs)	CDHR1 (N570fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2092326	NM_033100.4(CDHR1):c.1405del (p.Val469fs)	CDHR1 (V469fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2070853	NM_033100.4(CDHR1):c.1632C>A (p.Tyr544Ter)	CDHR1 (Y544*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2030498	NM_033100.4(CDHR1):c.1305del (p.Val436fs)	CDHR1 (V436fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2028607	NM_033100.4(CDHR1):c.850del (p.Ser284fs)	CDHR1 (S284fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1962540	NM_033100.4(CDHR1):c.1040del (p.Asn347fs)	CDHR1 (N347fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1949981	NM_033100.4(CDHR1):c.121_122del (p.Leu41fs)	CDHR1 (L41fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1941911	NM_033100.4(CDHR1):c.1956del (p.Trp652fs)	CDHR1 (W652fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1916121	NM_033100.4(CDHR1):c.964-1G>C	CDHR1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1911771	NM_033100.4(CDHR1):c.297+1G>A	CDHR1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1488416	NM_033100.4(CDHR1):c.784-1G>C	CDHR1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1481629	NM_033100.4(CDHR1):c.56-1G>A	CDHR1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1481355	NM_033100.4(CDHR1):c.1783-2A>G	CDHR1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1474003	NM_033100.4(CDHR1):c.1167+2T>C	CDHR1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1460364	NM_033100.4(CDHR1):c.18G>A (p.Trp6Ter)	CDHR1 (W6*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1457085	NM_033100.4(CDHR1):c.610del (p.Arg204fs)	CDHR1 (R204fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1455858	NM_033100.4(CDHR1):c.525+1G>T	CDHR1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1453319	NM_033100.4(CDHR1):c.1511G>A (p.Trp504Ter)	CDHR1 (W504*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1451292	NM_033100.4(CDHR1):c.1220del (p.Arg407fs)	CDHR1 (R407fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1435934	NM_033100.4(CDHR1):c.580del (p.Ala194fs)	CDHR1 (A194fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1417137	NM_033100.4(CDHR1):c.257del (p.Thr86fs)	CDHR1 (T86fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1371750	NM_033100.4(CDHR1):c.1516G>T (p.Glu506Ter)	CDHR1 (E506*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1361262	NM_033100.4(CDHR1):c.1503_1507del (p.Gly502fs)	CDHR1 (G502fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1345085	NM_033100.4(CDHR1):c.526-1G>A	CDHR1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1324034	NM_033100.4(CDHR1):c.1744A>T (p.Lys582Ter)	CDHR1 (K582*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1213966	NM_033100.4(CDHR1):c.1219C>T (p.Arg407Ter)	CDHR1 (R407*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 15 +1 more	GPathogenic
Select item 1184878	NM_033100.4(CDHR1):c.768C>G (p.Tyr256Ter)	CDHR1 (Y256*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1076765	NC_000010.10:g.(?_85954517)_(85960443_?)del	CDHR1	Deletion	not provided	GPathogenic
Select item 1075251	NM_033100.4(CDHR1):c.1342dup (p.Thr448fs)	CDHR1 (T448fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1071089	NM_033100.4(CDHR1):c.1000C>T (p.Gln334Ter)	CDHR1 (Q334*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1070985	NM_033100.4(CDHR1):c.413del (p.Glu138fs)	CDHR1 (E138fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1069264	NM_033100.4(CDHR1):c.1463dup (p.Ser489fs)	CDHR1 (S489fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1068893	NM_033100.4(CDHR1):c.355G>T (p.Glu119Ter)	CDHR1 (E119*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1066194	NM_033100.4(CDHR1):c.640-2A>T	CDHR1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 966264	NM_033100.4(CDHR1):c.193_194dup (p.Asp65fs)	CDHR1 (D65fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 955272	NM_033100.4(CDHR1):c.1168-1G>C	CDHR1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 955270	NM_033100.4(CDHR1):c.295del (p.Glu99fs)	CDHR1 (E99fs)	Deletion (frameshift variant)	Retinitis pigmentosa +1 more	GPathogenic
Select item 931851	NM_033100.4(CDHR1):c.616del (p.His206fs)	CDHR1 (H206fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 866838	NM_033100.4(CDHR1):c.954_958del (p.His319fs)	CDHR1 (H319fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 866140	NM_033100.4(CDHR1):c.55+1G>A	CDHR1	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 847679	NM_033100.4(CDHR1):c.1485+2T>C	CDHR1	Single nucleotide variant (splice donor variant)	Retinal dystrophy +1 more	GPathogenic
Select item 844427	NM_033100.4(CDHR1):c.838C>T (p.Arg280Ter)	CDHR1 (R280*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 838681	NM_033100.4(CDHR1):c.525+1G>A	CDHR1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 838072	NM_033100.4(CDHR1):c.782del (p.Pro261fs)	CDHR1 (P261fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 812262	NM_033100.4(CDHR1):c.1485+2T>G	CDHR1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 812261	NM_033100.4(CDHR1):c.1381C>T (p.Gln461Ter)	CDHR1 (Q461*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 438117	NM_033100.4(CDHR1):c.1527T>G (p.Tyr509Ter)	CDHR1 (Y509*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 438116	NM_033100.4(CDHR1):c.1463del (p.Gly488fs)	CDHR1 (G488fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 280752	NM_033100.4(CDHR1):c.863-1G>A	CDHR1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 37292	NM_033100.4(CDHR1):c.338del (p.Gly113fs)	CDHR1 (G113fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
Select item 18416	NM_033100.4(CDHR1):c.524dup (p.Asn176fs)	CDHR1 (N176fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic

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Links from PMC

Items: 65