81[HGNC] - ClinVar - NCBI

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	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 59543	GRCh38/hg38 17p13.3(chr17:193307-1376276)x1	ABR, ABR-AS1 +56 more	Copy number loss	See cases	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 148727	GRCh38/hg38 17p13.3(chr17:523549-1311896)x1	ABR, ABR-AS1 +41 more	Copy number loss	See cases	GLikely benign
Select item 57425	GRCh38/hg38 17p13.3(chr17:644280-2193615)x3	SERPINF2, SLC43A2 +134 more	Copy number gain	See cases	GPathogenic
Select item 146265	GRCh38/hg38 17p13.3(chr17:847955-1641601)x3	ABR, ABR-AS1 +43 more	Copy number gain	See cases	GPathogenic
Select item 57358	GRCh38/hg38 17p13.3(chr17:847955-1589181)x3	ABR, ABR-AS1 +42 more	Copy number gain	See cases	GPathogenic
Select item 59559	GRCh38/hg38 17p13.3(chr17:855404-1345517)x1	ABR, ABR-AS1 +19 more	Copy number loss	See cases	GPathogenic
Select item 151499	GRCh38/hg38 17p13.3(chr17:954820-1009440)x3	ABR, LOC121587569 +2 more	Copy number gain	See cases	GLikely benign
Select item 153144	GRCh38/hg38 17p13.3(chr17:1005522-1373762)x3	ABR, ABR-AS1 +14 more	Copy number gain	See cases	GUncertain significance
Select item 2238300	NM_021962.5(ABR):c.2536G>A (p.Ala846Thr)	ABR (A809T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132450	NM_021962.5(ABR):c.2531C>T (p.Ser844Phe)	ABR (S295F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304315	NM_021962.5(ABR):c.2507A>T (p.Tyr836Phe)	ABR (Y287F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768810	NM_021962.5(ABR):c.2490+4C>T	ABR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2290612	NM_021962.5(ABR):c.2486C>T (p.Ala829Val)	ABR (A611V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132441	NM_021962.5(ABR):c.2350G>A (p.Glu784Lys)	ABR (E235K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253202	NM_021962.5(ABR):c.2331A>T (p.Glu777Asp)	ABR (E1036D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328528	NM_021962.5(ABR):c.2285G>A (p.Arg762His)	ABR (R544H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269882	NM_021962.5(ABR):c.2233A>G (p.Ile745Val)	ABR (I196V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290304	NM_021962.5(ABR):c.2207G>A (p.Arg736Gln)	ABR (R187Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2626993	NM_021962.5(ABR):c.2175C>G (p.Phe725Leu)	ABR (F176L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2342838	NM_021962.5(ABR):c.2152G>A (p.Ala718Thr)	ABR (A169T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549885	NM_021962.5(ABR):c.2122A>G (p.Met708Val)	ABR (M159V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132420	NM_021962.5(ABR):c.2095G>A (p.Asp699Asn)	ABR (D653N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647181	NM_021962.5(ABR):c.2079G>A (p.Ala693=)	ABR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3328595	NM_021962.5(ABR):c.2067G>A (p.Thr689=)	ABR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2483335	NM_021962.5(ABR):c.2062G>A (p.Ala688Thr)	ABR (A470T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205074	NM_021962.5(ABR):c.2059G>A (p.Val687Met)	ABR (V138M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588523	NM_021962.5(ABR):c.1990G>A (p.Val664Ile)	ABR (V115I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132405	NM_021962.5(ABR):c.1958C>T (p.Thr653Met)	ABR (T616M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459262	NM_021962.5(ABR):c.1834G>A (p.Val612Met)	ABR (V394M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385407	NM_021962.5(ABR):c.1759G>A (p.Val587Met)	ABR (V369M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132387	NM_021962.5(ABR):c.1709A>G (p.Tyr570Cys)	ABR (Y533C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299207	NM_021962.5(ABR):c.1594G>A (p.Gly532Ser)	ABR (G314S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055066	NM_021962.5(ABR):c.1507T>C (p.Tyr503His)	ABR (Y285H +4 more)	Single nucleotide variant (missense variant)	ABR-related disorder	GLikely benign
Select item 3132377	NM_021962.5(ABR):c.1498C>G (p.Pro500Ala)	ABR (P454A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132374	NM_021962.5(ABR):c.1496C>T (p.Ser499Phe)	ABR (S462F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132371	NM_021962.5(ABR):c.1306A>T (p.Ser436Cys)	ABR (S390C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041522	NM_021962.5(ABR):c.1305+7A>T	ABR	Single nucleotide variant (intron variant)	ABR-related disorder	GLikely benign
Select item 3132367	NM_021962.5(ABR):c.1292A>G (p.Asn431Ser)	ABR (N213S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329006	NM_021962.5(ABR):c.1217G>A (p.Arg406His)	ABR (R188H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132364	NM_021962.5(ABR):c.1210A>G (p.Ile404Val)	ABR (I367V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154912	GRCh38/hg38 17p13.3(chr17:1060457-1332519)x3	ABR, ABR-AS1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 57165	GRCh38/hg38 17p13.3(chr17:1065649-2261786)x1	ABR, ABR-AS1 +119 more	Copy number loss	See cases	GPathogenic
Select item 2480945	NM_021962.5(ABR):c.1140G>C (p.Met380Ile)	ABR (M334I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132360	NM_021962.5(ABR):c.1037G>A (p.Cys346Tyr)	ABR (C128Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132461	NM_021962.5(ABR):c.863G>A (p.Arg288His)	ABR (R70H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328801	NM_021962.5(ABR):c.815G>A (p.Arg272His)	ABR (R272H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152779	GRCh38/hg38 17p13.3(chr17:1078810-1263198)x3	ABR, ABR-AS1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 151085	GRCh38/hg38 17p13.3(chr17:1078810-1170736)x1	ABR	Copy number loss	See cases	GUncertain significance
Select item 3328906	NM_021962.5(ABR):c.655G>C (p.Gly219Arg)	ABR (G219R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328698	NM_021962.5(ABR):c.649G>A (p.Val217Met)	ABR (V171M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132458	NM_021962.5(ABR):c.502G>A (p.Val168Ile)	ABR (V168I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 154829	GRCh38/hg38 17p13.3(chr17:1113825-1641612)x3	ABR, ABR-AS1 +35 more	Copy number gain	See cases	GPathogenic
Select item 152588	GRCh38/hg38 17p13.3(chr17:1119701-1561544)x3	ABR, ABR-AS1 +29 more	Copy number gain	See cases	GLikely pathogenic
Select item 2365627	NM_021962.5(ABR):c.211G>A (p.Val71Ile)	ABR (V25I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 714715	NM_021962.5(ABR):c.198C>T (p.Gly66=)	ABR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3132402	NM_021962.5(ABR):c.184G>A (p.Ala62Thr)	ABR (A16T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494001	NM_021962.5(ABR):c.183C>A (p.Ser61Arg)	ABR (S15R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515339	NM_021962.5(ABR):c.122C>T (p.Pro41Leu)	ABR (P300L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 155491	GRCh38/hg38 17p13.3(chr17:1149477-1473293)x3	ABR, ABR-AS1 +16 more	Copy number gain	See cases	GLikely pathogenic
Select item 155705	GRCh38/hg38 17p13.3(chr17:1158140-1373950)x3	ABR, ABR-AS1 +12 more	Copy number gain	See cases	GLikely benign
Select item 58670	GRCh38/hg38 17p13.3(chr17:1174818-1634495)x3	ABR, ABR-AS1 +35 more	Copy number gain	See cases	GPathogenic
Select item 2240694	NM_021962.5(ABR):c.14G>C (p.Ser5Thr)	ABR (S5T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 932227	GRCh38/hg38 17p13.3(chr17:1192285-1641601)x3	LOC130059870, LOC130059871 +34 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 157373	NM_001164405.1(BHLHA9):c.-56867_66089del	ABR, BHLHA9 +5 more	Deletion	Preeclampsia	Gnot provided
Select item 149499	GRCh38/hg38 17p13.3(chr17:1227392-2261993)x1	ABR, BHLHA9 +114 more	Copy number loss	See cases	GPathogenic
Select item 599191	NC_000017.11:g.1227482_1458196dup	LOC130059874, LOC130059875 +9 more	Duplication	Chromosome 17p13.3 duplication syndrome	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 57472	GRCh38/hg38 17p13.3(chr17:1227482-1506548)x1	ABR, BHLHA9 +19 more	Copy number loss	See cases	GPathogenic
Select item 3038651	NM_001322842.2(ABR):c.989A>G (p.Ter330Trp)	ABR	Single nucleotide variant (stop lost +1 more)	ABR-related disorder	GBenign
Select item 768811	NM_001322841.2(ABR):c.371G>A (p.Arg124Gln)	ABR (R124Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771019	NM_001322841.2(ABR):c.341G>A (p.Gly114Glu)	ABR (G114E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3029550	NM_001322841.2(ABR):c.310G>C (p.Ala104Pro)	ABR (A104P)	Single nucleotide variant (missense variant)	ABR-related disorder	GLikely benign
Select item 3047017	NM_001322841.2(ABR):c.221CCGGGCGCCCCGACCCCGAGGCCGAGTCTCCCCGCGGGGACC[1] (p.74PGRPDPEAESPRGD[1])	ABR	Microsatellite (inframe_deletion)	ABR-related disorder	GLikely benign
Select item 768812	NM_001322841.2(ABR):c.219G>C (p.Glu73Asp)	ABR (E73D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768813	NM_001322841.2(ABR):c.92C>A (p.Ala31Glu)	ABR, LOC130059874 (A31E)	Single nucleotide variant (missense variant)	not provided	GBenign

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