30266[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 130

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	ABR, ABR-AS1 +224 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149193	GRCh38/hg38 17p13.3(chr17:162016-2099130)x1	ABR, ABR-AS1 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 149146	GRCh38/hg38 17p13.3(chr17:162016-1682817)x3	ABR, ABR-AS1 +84 more	Copy number gain	See cases	GLikely pathogenic
Select item 148875	GRCh38/hg38 17p13.3(chr17:162016-1904358)x1	ABR, ABR-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145643	GRCh38/hg38 17p13.3(chr17:198748-2685361)x1	LOC130059962, LOC130059963 +197 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 144305	GRCh38/hg38 17p13.3(chr17:198748-1920952)x1	ABR, ABR-AS1 +100 more	Copy number loss	See cases	GPathogenic
Select item 57445	GRCh38/hg38 17p13.3(chr17:198748-2261786)x1	ABR, ABR-AS1 +163 more	Copy number loss	See cases	GPathogenic
Select item 57265	GRCh38/hg38 17p13.3(chr17:198748-3102332)x1	ABR, ABR-AS1 +217 more	Copy number loss	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059869, LOC130059870 +243 more	Copy number loss	See cases	GPathogenic
Select item 58652	GRCh38/hg38 17p13.3(chr17:234496-2385512)x3	LOC130059867, LOC130059868 +178 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 58657	GRCh38/hg38 17p13.3(chr17:445331-2385512)x3	ABR, ABR-AS1 +168 more	Copy number gain	See cases	GPathogenic
Select item 57425	GRCh38/hg38 17p13.3(chr17:644280-2193615)x3	SERPINF2, SLC43A2 +134 more	Copy number gain	See cases	GPathogenic
Select item 57165	GRCh38/hg38 17p13.3(chr17:1065649-2261786)x1	ABR, ABR-AS1 +119 more	Copy number loss	See cases	GPathogenic
Select item 932228	GRCh38/hg38 17p13.3(chr17:1113701-1844036)x3	SERPINF1, SERPINF2 +53 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 146016	GRCh38/hg38 17p13.3(chr17:1209808-1931101)x3	ABR, BHLHA9 +51 more	Copy number gain	See cases	GPathogenic
Select item 149499	GRCh38/hg38 17p13.3(chr17:1227392-2261993)x1	ABR, BHLHA9 +114 more	Copy number loss	See cases	GPathogenic
Select item 155112	GRCh38/hg38 17p13.3(chr17:1227482-2082382)x1	ABR, BHLHA9 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 147453	GRCh38/hg38 17p13.3(chr17:1227482-2261786)x3	LOC130059912, LOC130059913 +114 more	Copy number gain	See cases	GLikely pathogenic
Select item 58671	GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3	INPP5K, CCDC92B +164 more	Copy number gain	See cases	GPathogenic
Select item 148529	GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3	LOC130059937, LOC130059938 +174 more	Copy number gain	See cases	GLikely pathogenic
Select item 3314325	NM_031430.3(RILP):c.1187C>T (p.Ser396Leu)	RILP (S396L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212042	NM_031430.3(RILP):c.1175G>T (p.Cys392Phe)	RILP (C392F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410652	NM_031430.3(RILP):c.1135G>A (p.Ala379Thr)	RILP (A379T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2486874	NM_031430.3(RILP):c.1120C>G (p.Gln374Glu)	RILP (Q374E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233254	NM_031430.3(RILP):c.1106G>T (p.Gly369Val)	RILP (G369V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349870	NM_031430.3(RILP):c.1094G>T (p.Ser365Ile)	RILP (S365I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154302	NM_031430.3(RILP):c.955G>A (p.Ala319Thr)	RILP (A319T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154301	NM_031430.3(RILP):c.892C>T (p.Arg298Trp)	RILP (R298W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154300	NM_031430.3(RILP):c.883C>T (p.Arg295Trp)	RILP (R295W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250719	NM_031430.3(RILP):c.829C>T (p.Leu277Phe)	RILP (L277F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383266	NM_031430.3(RILP):c.703C>G (p.Pro235Ala)	RILP (P235A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286606	NM_031430.3(RILP):c.659G>A (p.Gly220Glu)	RILP (G220E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209433	NM_031430.3(RILP):c.655C>A (p.Pro219Thr)	RILP (P219T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154299	NM_031430.3(RILP):c.584G>A (p.Arg195Gln)	RILP (R195Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154298	NM_031430.3(RILP):c.554C>T (p.Ala185Val)	RILP (A185V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613171	NM_031430.3(RILP):c.543G>C (p.Gln181His)	RILP (Q181H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154297	NM_031430.3(RILP):c.503A>T (p.Gln168Leu)	RILP (Q168L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606260	NM_031430.3(RILP):c.418G>A (p.Glu140Lys)	LOC125177403, RILP (E140K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314324	NM_031430.3(RILP):c.412G>A (p.Gly138Ser)	LOC125177403, RILP (G138S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3314326	NM_031430.3(RILP):c.373G>A (p.Asp125Asn)	LOC125177403, RILP (D125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592600	NM_031430.3(RILP):c.365G>C (p.Arg122Pro)	LOC125177403, RILP (R122P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207315	NM_031430.3(RILP):c.321G>T (p.Gln107His)	LOC125177403, RILP (Q107H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296190	NM_031430.3(RILP):c.289C>T (p.Arg97Cys)	LOC125177403, RILP (R97C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229175	NM_031430.3(RILP):c.238T>G (p.Ser80Ala)	RILP (S80A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154295	NM_031430.3(RILP):c.223G>C (p.Asp75His)	RILP (D75H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231042	NM_031430.3(RILP):c.212G>A (p.Gly71Glu)	RILP (G71E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552009	NM_031430.3(RILP):c.140G>A (p.Gly47Glu)	RILP (G47E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510723	NM_031430.3(RILP):c.121G>T (p.Asp41Tyr)	RILP (D41Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239315	NM_031430.3(RILP):c.110C>T (p.Thr37Ile)	RILP (T37I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215760	NM_031430.3(RILP):c.106G>A (p.Gly36Ser)	RILP (G36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395040	NM_031430.3(RILP):c.49G>A (p.Glu17Lys)	RILP (E17K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154296	NM_031430.3(RILP):c.39G>C (p.Trp13Cys)	RILP (W13C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 866049	NM_006445.4(PRPF8):c.6334AAG[1] (p.Lys2113del)	PRPF8, RILP (K2113del)	Microsatellite (inframe_deletion)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 3392433	GRCh37/hg19 17p13.3(chr17:1408701-2312362)x1	DPH1, HIC1 +22 more	Copy number loss	not provided	GUncertain significance
Select item 3391933	GRCh37/hg19 17p13.3-13.2(chr17:9475-3793447)x1	ABR, ASPA +67 more	Copy number loss	not provided	GPathogenic
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3243204	NC_000017.10:g.(?_882539)_(1565467_?)del	ABR, BHLHA9 +12 more	Deletion	not provided	GPathogenic
Select item 3243179	NC_000017.10:g.(?_1516489)_(1565447_?)del	PRPF8, RILP +2 more	Deletion	not provided	GPathogenic
Select item 3243178	NC_000017.10:g.(?_1552664)_(1554255_?)del	PRPF8, RILP	Deletion	not provided	GUncertain significance
Select item 3242329	GRCh37/hg19 17p13.3(chr17:722145-1875784)x1	ABR, BHLHA9 +20 more	Copy number loss	not provided	GUncertain significance
Select item 3063527	GRCh37/hg19 17p13.3(chr17:1505119-3010963)x1	CLUH, DPH1 +26 more	Copy number loss	not specified	GPathogenic
Select item 3063515	GRCh37/hg19 17p13.3(chr17:1483585-1714805)x3	MIR22, PRPF8 +8 more	Copy number gain	not specified	GUncertain significance
Select item 3063489	GRCh37/hg19 17p13.3(chr17:1139864-1703566)x3	BHLHA9, CRK +15 more	Copy number gain	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2685592	GRCh37/hg19 17p13.3(chr17:1469988-1591788)x1	PRPF8, RILP +2 more	Copy number loss	not provided	GUncertain significance
Select item 2685591	GRCh37/hg19 17p13.3(chr17:1225474-2201587)x1	CRK, DPH1 +21 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685590	GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1	ABR, ASPA +57 more	Copy number loss	not provided	GPathogenic
Select item 2684825	GRCh37/hg19 17p13.3(chr17:526-2687966)x3	ABR, BHLHA9 +42 more	Copy number gain	not provided	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2445502	NC_000017.10:g.(?_422368)_(2585096_?)dup	ABR, BHLHA9 +37 more	Duplication	not provided	GUncertain significance
Select item 2445495	NC_000017.10:g.(?_422368)_(1945151_?)del	ABR, BHLHA9 +26 more	Deletion	not provided	GPathogenic
Select item 2425641	NC_000017.10:g.(?_422368)_(1680740_?)del	ABR, BHLHA9 +22 more	Deletion	not provided	GUncertain significance
Select item 2423901	NC_000017.10:g.(?_1478898)_(1642177_?)del	MIR22, PRPF8 +5 more	Deletion	not provided	GPathogenic
Select item 1808625	GRCh37/hg19 17p13.3(chr17:526-1690452)x1	ABR, BHLHA9 +27 more	Copy number loss	not provided	GPathogenic
Select item 1808588	GRCh37/hg19 17p13.3(chr17:1377247-2455613)x3	DPH1, HIC1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1807785	GRCh37/hg19 17p13.3-13.2(chr17:1095592-3484368)x3	ASPA, BHLHA9 +46 more	Copy number gain	not provided	GPathogenic
Select item 1400855	NC_000017.10:g.(?_725577)_(1680740_?)dup	ABR, BHLHA9 +17 more	Duplication	not provided	GUncertain significance
Select item 1340305	GRCh37/hg19 17p13.3(chr17:1176459-1570012)x3	CRK, INPP5K +8 more	Copy number gain	not provided	GPathogenic
Select item 1340108	GRCh37/hg19 17p13.3(chr17:858365-1690452)x3	ABR, BHLHA9 +18 more	Copy number gain	not provided	GPathogenic
Select item 1339819	GRCh37/hg19 17p13.3(chr17:1041555-1576875)x3	ABR, BHLHA9 +10 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	Gnot provided
Select item 1048616	GRCh37/hg19 17p13.3(chr17:1479954-1585094)x1	PRPF8, RILP +2 more	Copy number loss	See cases	GUncertain significance
Select item 988932	GRCh37/hg19 17p13.3(chr17:722145-1875784)x1	TIMM22, TLCD2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 981204	GRCh37/hg19 17p13.3(chr17:84287-2468384)x1	MNT, MRM3 +39 more	Copy number loss	Distal 17p13.3 microdeletion syndrome	GPathogenic
Select item 832985	NC_000017.11:g.(?_1613195)_(1681690_?)dup	PRPF8, RILP +2 more	Duplication	not provided	GUncertain significance
Select item 816554	GRCh37/hg19 17p13.3(chr17:1310685-1690452)x3	CRK, INPP5K +12 more	Copy number gain	not provided	GUncertain significance
Select item 816552	GRCh37/hg19 17p13.3(chr17:1204863-1751418)x3	CRK, INPP5K +14 more	Copy number gain	not provided	GPathogenic
Select item 816550	GRCh37/hg19 17p13.3(chr17:1009449-1722313)x3	ABR, BHLHA9 +16 more	Copy number gain	not provided	GPathogenic
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	ABR, ALOX15 +115 more	Copy number loss	See cases	GPathogenic

<< First< Prev

Page of 2