"Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg"[subm - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3249291	NC_000023.11:g.(?_85864629)_(86047533_?)del	CHM, LOC129391306 +2 more	Deletion	Retinal dystrophy	GPathogenic
Select item 3248929	NC_000023.11:g.(?_85864629)_(85864822_85873051)del	CHM	Deletion	Retinal dystrophy	GPathogenic
Select item 3248652	NC_000023.11:g.(?_85864629)_(85879064_85894187)del	CHM	Deletion	Retinal dystrophy	GPathogenic
Select item 3249520	NM_000390.4(CHM):c.1748G>T (p.Gly583Val)	CHM (G435V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3249903	NM_000390.4(CHM):c.1745T>A (p.Leu582Ter)	CHM (L434* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 871857	NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs)	CHM (Y551fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic
Select item 3249944	NM_000390.4(CHM):c.1509del (p.Tyr504fs)	CHM (Y356fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 11149	NM_000390.4(CHM):c.1484C>A (p.Ser495Ter)	CHM (S495* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 493536	NM_000390.4(CHM):c.1413G>A (p.Gln471=)	CHM	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 3249765	NM_000390.4(CHM):c.1358_1359del (p.Ile452_Ser453insTer)	CHM	Deletion (nonsense)	Retinal dystrophy	GPathogenic
Select item 866313	NM_000390.4(CHM):c.1358_1359delinsG (p.Ile452_Ser453insTer)	CHM	Indel (nonsense)	Retinal dystrophy +1 more	GPathogenic
Select item 3249906	NM_000390.4(CHM):c.1350-2A>G	CHM	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GPathogenic
Select item 3249718	NM_000390.4(CHM):c.1350-10T>A	CHM	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 3249902	NM_000390.4(CHM):c.1349G>A (p.Arg450Lys)	CHM (R302K +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028617	NM_000390.4(CHM):c.1334C>A (p.Ser445Ter)	CHM (S297* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3249886	NM_000390.4(CHM):c.1287dup (p.Glu430Ter)	CHM (E282* +1 more)	Duplication (nonsense)	Retinal dystrophy	GPathogenic
Select item 3250219	NM_000390.4(CHM):c.1276A>T (p.Arg426Ter)	CHM (R278* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 3249795	NM_000390.4(CHM):c.1255_1258del (p.Ala418_Ile419insTer)	CHM	Deletion (nonsense)	Retinal dystrophy	GPathogenic
Select item 3249719	NM_000390.4(CHM):c.1258del (p.Ile419_Ile420insTer)	CHM	Deletion (nonsense)	Retinal dystrophy	GPathogenic
Select item 2737267	NM_000390.4(CHM):c.1244+1G>A	CHM	Single nucleotide variant (splice donor variant)	Retinal dystrophy +1 more	GPathogenic
Select item 372322	NM_000390.4(CHM):c.1213C>T (p.Gln405Ter)	CHM (Q405* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3249930	NM_000390.4(CHM):c.1036G>T (p.Glu346Ter)	CHM (E198* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 3249748	NM_000390.4(CHM):c.1000C>T (p.Gln334Ter)	CHM (Q186* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 1454540	NM_000390.4(CHM):c.979C>T (p.Gln327Ter)	CHM (Q179* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2737269	NM_000390.4(CHM):c.940+1G>A	CHM	Single nucleotide variant (splice donor variant)	Retinal dystrophy +1 more	GPathogenic
Select item 11154	NM_000390.4(CHM):c.877C>T (p.Arg293Ter)	CHM (R293* +1 more)	Single nucleotide variant (nonsense)	Choroideremia +2 more	GPathogenic
Select item 3249418	NM_000390.4(CHM):c.856del (p.Gln286fs)	CHM (Q138fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 1073121	NM_000390.4(CHM):c.817C>T (p.Gln273Ter)	CHM (Q125* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic
Select item 143078	NM_000390.4(CHM):c.808C>T (p.Arg270Ter)	CHM (R270* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic
Select item 279775	NM_000390.4(CHM):c.799C>T (p.Arg267Ter)	CHM (R267* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic
Select item 3248882	NM_000390.4(CHM):c.762T>G (p.Tyr254Ter)	CHM (Y106* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 279774	NM_000390.4(CHM):c.757C>T (p.Arg253Ter)	CHM (R253* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic
Select item 285756	NM_000390.4(CHM):c.715C>T (p.Arg239Ter)	CHM (R239* +1 more)	Single nucleotide variant (nonsense)	Choroideremia +2 more	GPathogenic
Select item 866706	NM_000390.4(CHM):c.653C>G (p.Ser218Ter)	CHM (S218* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1075258	NM_000390.4(CHM):c.616dup (p.Thr206fs)	CHM (T206fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3249788	NM_000390.4(CHM):c.535G>T (p.Glu179Ter)	CHM (E179* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 2072173	NM_000390.4(CHM):c.534del (p.Glu179fs)	CHM (E179fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 279773	NM_000390.4(CHM):c.525_526del (p.Glu177fs)	CHM (E29fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 3249876	NM_000390.4(CHM):c.372dup (p.Val125fs)	CHM, LOC129391306 (V125fs)	Duplication (frameshift variant +1 more)	Retinal dystrophy	GPathogenic
Select item 279772	NM_000390.4(CHM):c.315_318del (p.Ser105Argfs)	LOC129391306, CHM	Deletion (splice acceptor variant)	Retinal dystrophy +1 more	GPathogenic
Select item 3249741	NM_000390.4(CHM):c.315-1G>A	CHM, LOC129391306	Single nucleotide variant (splice acceptor variant +1 more)	Retinal dystrophy	GPathogenic
Select item 3249010	NM_000390.4(CHM):c.315-5A>G	CHM, LOC129391306	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 3249878	NM_000390.4(CHM):c.217_221del (p.Pro73fs)	CHM (P73fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GPathogenic
Select item 3249729	NM_000390.4(CHM):c.189+1G>A	CHM	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GPathogenic
Select item 1675198	NM_000390.4(CHM):c.187C>T (p.Gln63Ter)	CHM (Q63*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +1 more	GPathogenic
Select item 3249901	NM_000390.4(CHM):c.131_134dup (p.Asn46fs)	CHM (N46fs)	Duplication (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 2833265	NM_000390.4(CHM):c.129T>G (p.Tyr43Ter)	CHM (Y43*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 189189	NM_000390.4(CHM):c.116+1G>A	CHM	Single nucleotide variant (splice donor variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 3249882	NM_000390.4(CHM):c.50-1G>T	CHM	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GPathogenic
Select item 3248987	NM_000390.4(CHM):c.50-1G>A	CHM	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GPathogenic
Select item 3248891	NC_000023.11:g.(86027558_86047483)_(86047533_?)del	CHM	Deletion	Retinal dystrophy	GPathogenic
Select item 2701007	NM_000390.4(CHM):c.50-2A>G	CHM	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 382857	NM_000390.4(CHM):c.49+5G>A	CHM	Single nucleotide variant (intron variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 3250222	NM_000390.4:c.(315-4311_315-1811)_(702+1_703-1)del	CHM	Deletion	Retinal dystrophy	GPathogenic
Select item 3250192	NM_000390.4:c.(116+1_117-1)_(189+1_190-1)del	CHM	Deletion	Retinal dystrophy	GPathogenic
Select item 3250123	NM_000390.4:c.(116+1_117-1)_(1166+1_1167-1)del	CHM	Deletion	Retinal dystrophy	GPathogenic
Select item 3249925	NM_000390.4:c.(1413+1_1414-1)_(1510+1_1511-1)del	CHM	Deletion	Retinal dystrophy	GPathogenic
Select item 3249912	NM_000390.4:c.98_99insAluYb9	CHM	Insertion	Retinal dystrophy	GPathogenic
Select item 3249229	NM_000390.4:c.(116+1_117-1)_(314+1_315-1)del	CHM	Deletion	Retinal dystrophy	GPathogenic
Select item 3249046	NM_000390.4:c.(1510+1_1511-1)_(1770+1_1771-1)del	CHM	Deletion	Retinal dystrophy	GPathogenic
Select item 3248685	NM_000390.4:c.(116+1_117-1)_(1244+1_1245-1)del	CHM	Deletion	Retinal dystrophy	GPathogenic
Select item 3248661	NM_000390.4:c.(314+1_315-1)_(1166+1_1167-1)del	CHM	Deletion	Retinal dystrophy	GPathogenic

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Items: 62