ClinVar for Gene (Select 124641) - ClinVar

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Links from Gene

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3389565	NM_080822.3(OVCA2):c.192C>T (p.Cys64=)	DPH1, OVCA2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3303724	NM_080822.3(OVCA2):c.29T>G (p.Leu10Arg)	DPH1, OVCA2 (L10R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303723	NM_080822.3(OVCA2):c.160C>T (p.Pro54Ser)	DPH1, LOC130059903 +1 more (P54S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3243118	NC_000017.10:g.(?_1648982)_(2583634_?)del	DPH1, HIC1 +15 more	Deletion	not provided	GPathogenic
Select item 3207461	NM_080822.3(OVCA2):c.613G>A (p.Gly205Ser)	DPH1, OVCA2 (G205S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207459	NM_080822.3(OVCA2):c.25G>T (p.Val9Phe)	DPH1, OVCA2 (V9F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207458	NM_080822.3(OVCA2):c.194C>T (p.Pro65Leu)	DPH1, OVCA2 (P65L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207457	NM_080822.3(OVCA2):c.158G>C (p.Gly53Ala)	DPH1, LOC130059903 +1 more (G53A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067207	NM_080822.3(OVCA2):c.6C>T (p.Ala2=)	DPH1, OVCA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3063527	GRCh37/hg19 17p13.3(chr17:1505119-3010963)x1	CLUH, DPH1 +26 more	Copy number loss	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 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 2595368	NM_080822.3(OVCA2):c.560G>C (p.Ser187Thr)	DPH1, OVCA2 (S187T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 2536484	NM_080822.3(OVCA2):c.425C>T (p.Pro142Leu)	DPH1, OVCA2 (P142L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517312	NM_080822.3(OVCA2):c.601A>C (p.Thr201Pro)	DPH1, OVCA2 (T201P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2494824	NM_080822.3(OVCA2):c.325C>G (p.Leu109Val)	DPH1, OVCA2 (L109V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2491147	NM_080822.3(OVCA2):c.316C>A (p.Leu106Met)	DPH1, OVCA2 (L106M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2479830	NM_080822.3(OVCA2):c.547C>T (p.Pro183Ser)	DPH1, OVCA2 (P183S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2445502	NC_000017.10:g.(?_422368)_(2585096_?)dup	ABR, BHLHA9 +37 more	Duplication	not provided	GUncertain significance
Select item 2390439	NM_080822.3(OVCA2):c.281G>A (p.Gly94Asp)	DPH1, OVCA2 (G94D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2388702	NM_080822.3(OVCA2):c.19C>G (p.Leu7Val)	DPH1, OVCA2 (L7V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377911	NM_080822.3(OVCA2):c.284T>A (p.Leu95Gln)	DPH1, OVCA2 (L95Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2351092	NM_080822.3(OVCA2):c.541G>A (p.Val181Ile)	DPH1, OVCA2 (V181I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2342344	NM_080822.3(OVCA2):c.343C>T (p.Leu115Phe)	DPH1, OVCA2 (L115F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2323383	NM_080822.3(OVCA2):c.359A>C (p.Gln120Pro)	DPH1, OVCA2 (Q120P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2305902	NM_080822.3(OVCA2):c.655C>T (p.Leu219Phe)	DPH1, OVCA2 (L219F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2303855	NM_080822.3(OVCA2):c.326T>C (p.Leu109Pro)	DPH1, OVCA2 (L109P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2237826	NM_080822.3(OVCA2):c.169G>C (p.Ala57Pro)	DPH1, LOC130059903 +1 more (A57P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204596	NM_080822.3(OVCA2):c.559A>T (p.Ser187Cys)	DPH1, OVCA2 (S187C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 1302089	NM_001383.6(DPH1):c.*19-155C>T	DPH1, OVCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302080	NM_001383.6(DPH1):c.*19-205C>T	DPH1, OVCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302072	NM_001383.6(DPH1):c.*19-278G>T	DPH1, OVCA2	Single nucleotide variant (intron variant)	not provided	GBenign
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 816555	GRCh37/hg19 17p13.3(chr17:1737911-2233965)x1	SMG6, MIR212 +8 more	Copy number loss	not provided	GUncertain significance
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	ABR, ALOX15 +115 more	Copy number loss	See cases	GPathogenic
Select item 815874	GRCh37/hg19 17p13.3(chr17:525-2221159)x1	ABR, BHLHA9 +36 more	Copy number loss	not provided	GPathogenic
Select item 687701	GRCh37/hg19 17p13.3(chr17:1501331-2832123)x3	CLUH, DPH1 +24 more	Copy number gain	not provided	GPathogenic
Select item 686181	GRCh37/hg19 17p13.3(chr17:1690502-1992920)x3	DPH1, HIC1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	ABR, ALOX15 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 544685	GRCh37/hg19 17p13.3(chr17:1-2538512)x4,5	INPP5K, LIAT1 +41 more	Copy number gain	Echogenic fetal bowel +4 more	GUncertain significance
Select item 523260	GRCh37/hg19 17p13.3(chr17:1361431-2573023)	DPH1, HIC1 +25 more	Copy number loss	Abnormal facial shape +2 more	GPathogenic
Select item 443660	GRCh37/hg19 17p13.3(chr17:800049-2390454)x1	ABR, BHLHA9 +31 more	Copy number loss	See cases	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 443265	GRCh37/hg19 17p13.3(chr17:525-2750745)x1	ABR, BHLHA9 +43 more	Copy number loss	See cases	GPathogenic
Select item 443023	GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1	ABR, ASPA +68 more	Copy number loss	See cases	GPathogenic
Select item 442860	GRCh37/hg19 17p13.3(chr17:525-1968434)x1	ABR, BHLHA9 +35 more	Copy number loss	See cases	GPathogenic
Select item 442755	GRCh37/hg19 17p13.3(chr17:525-2264023)x1	ABR, BHLHA9 +38 more	Copy number loss	See cases	GPathogenic
Select item 442222	GRCh37/hg19 17p13.3-13.2(chr17:1922768-3429136)x3	ASPA, CLUH +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 442031	GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3	ABR, ANKFY1 +72 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic
Select item 394497	GRCh37/hg19 17p13.3(chr17:1936753-2901448)x1	CLUH, DPH1 +12 more	Copy number loss	See cases	GPathogenic
Select item 394439	GRCh37/hg19 17p13.3(chr17:48858-2940028)x1	NXN, OVCA2 +42 more	Copy number loss	See cases	GPathogenic
Select item 394212	GRCh37/hg19 17p13.3-13.2(chr17:48858-3379400)x1	ABR, ASPA +55 more	Copy number loss	See cases	GPathogenic
Select item 393889	GRCh37/hg19 17p13.3(chr17:6160-2002365)	ABR, BHLHA9 +35 more	Copy number gain	See cases	GPathogenic
Select item 253507	GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3	ABR, ASPA +60 more	Copy number gain	See cases	GPathogenic
Select item 253440	GRCh37/hg19 17p13.3(chr17:1218064-2619473)x1	MIR212, SCARF1 +28 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 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
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 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 150607	GRCh38/hg38 17p13.3(chr17:1808796-2403389)x3	DPH1, HIC1 +90 more	Copy number gain	See cases	GUncertain significance
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 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 149261	GRCh38/hg38 17p13.3(chr17:2012699-2644858)x1	DPH1, HIC1 +94 more	Copy number loss	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 149147	GRCh38/hg38 17p13.3(chr17:1742705-2952264)x1	CCDC92B, CLUH +122 more	Copy number loss	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 147453	GRCh38/hg38 17p13.3(chr17:1227482-2261786)x3	LOC130059912, LOC130059913 +114 more	Copy number gain	See cases	GLikely pathogenic
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 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 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 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 58671	GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3	INPP5K, CCDC92B +164 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 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	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 57445	GRCh38/hg38 17p13.3(chr17:198748-2261786)x1	ABR, ABR-AS1 +163 more	Copy number loss	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 57265	GRCh38/hg38 17p13.3(chr17:198748-3102332)x1	ABR, ABR-AS1 +217 more	Copy number loss	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

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Links from Gene

Items: 95