ClinVar for Gene (Select 100131980) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685283	GRCh37/hg19 8p23.3-23.1(chr8:158049-8192683)x1	DEFB104A, DEFB104B +39 more	Copy number loss	not provided	GPathogenic
Select item 2685282	GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1	DEFB104B, DEFB105A +64 more	Copy number loss	not provided	GPathogenic
Select item 2685281	GRCh37/hg19 8p23.3-23.1(chr8:158049-10007143)x1	DEFB1, DEFB107A +46 more	Copy number loss	not provided	GPathogenic
Select item 2685280	GRCh37/hg19 8p23.3-23.1(chr8:158049-8093066)x1	CLN8, CSMD1 +39 more	Copy number loss	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671622	Single allele	AGPAT5, ANGPT2 +22 more	Deletion	not provided	GPathogenic
Select item 2658361	NM_001164457.3(ZNF705G):c.849A>T (p.Pro283=)	ZNF705G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621930	NM_001164457.3(ZNF705G):c.37G>A (p.Ala13Thr)	ZNF705G (A13T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617960	NM_001164457.3(ZNF705G):c.160T>C (p.Tyr54His)	ZNF705G (Y54H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590293	NM_001164457.3(ZNF705G):c.485A>G (p.His162Arg)	ZNF705G (H162R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580328	GRCh37/hg19 8p23.3-23.1(chr8:10501-11142629)x1	AGPAT5, ANGPT2 +55 more	Copy number loss	See cases	GPathogenic
Select item 2580324	GRCh37/hg19 8p23.1(chr8:7080281-12045269)x3	BLK, C8orf74 +47 more	Copy number gain	8p23.1 duplication syndrome	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2546542	NM_001164457.3(ZNF705G):c.671G>C (p.Gly224Ala)	ZNF705G (G224A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526713	NM_001164457.3(ZNF705G):c.547A>G (p.Asn183Asp)	ZNF705G (N183D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520075	NM_001164457.3(ZNF705G):c.890C>T (p.Ser297Phe)	ZNF705G (S297F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478155	NM_001164457.3(ZNF705G):c.517C>G (p.Gln173Glu)	ZNF705G (Q173E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2408823	NM_001164457.3(ZNF705G):c.498T>A (p.His166Gln)	ZNF705G (H166Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406942	NM_001164457.3(ZNF705G):c.301T>C (p.Ser101Pro)	ZNF705G (S101P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393854	NM_001164457.3(ZNF705G):c.566G>A (p.Arg189Gln)	ZNF705G (R189Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391013	NM_001164457.3(ZNF705G):c.668C>T (p.Thr223Met)	ZNF705G (T223M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370288	NM_001164457.3(ZNF705G):c.748C>T (p.His250Tyr)	ZNF705G (H250Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332037	NM_001164457.3(ZNF705G):c.887C>T (p.Ser296Phe)	ZNF705G (S296F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307045	NM_001164457.3(ZNF705G):c.416G>A (p.Ser139Asn)	ZNF705G (S139N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306180	NM_001164457.3(ZNF705G):c.147G>C (p.Gln49His)	ZNF705G (Q49H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303318	NM_001164457.3(ZNF705G):c.678A>C (p.Arg226Ser)	ZNF705G (R226S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299663	NM_001164457.3(ZNF705G):c.622G>A (p.Ala208Thr)	ZNF705G (A208T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275253	NM_001164457.3(ZNF705G):c.37G>C (p.Ala13Pro)	ZNF705G (A13P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260583	NM_001164457.3(ZNF705G):c.223G>C (p.Asp75His)	ZNF705G (D75H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251179	NM_001164457.3(ZNF705G):c.490C>G (p.Gln164Glu)	ZNF705G (Q164E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241999	NM_001164457.3(ZNF705G):c.100G>T (p.Asp34Tyr)	ZNF705G (D34Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208324	NM_001164457.3(ZNF705G):c.428C>T (p.Pro143Leu)	ZNF705G (P143L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808721	GRCh37/hg19 8p23.3-23.1(chr8:158049-10965627)x1	AGPAT5, ANGPT2 +53 more	Copy number loss	not provided	GPathogenic
Select item 1808083	GRCh37/hg19 8p23.1(chr8:6284373-9047178)x3	AGPAT5, ANGPT2 +33 more	Copy number gain	not provided	GUncertain significance
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	ZNF705B, ZNF705D +93 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	ADAM32, ADAM7 +250 more	Complex	See cases	GPathogenic
Select item 1708195	GRCh37/hg19 8p23.3-23.1(chr8:158048-11281408)x1	AGPAT5, ANGPT2 +56 more	Copy number loss	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703666	GRCh37/hg19 8p23.3-23.1(chr8:158048-10348413)	AGPAT5, ANGPT2 +46 more	Copy number gain	Neurodevelopmental delay	GPathogenic
Select item 1703665	Single allele	ASAH1-AS1, ASH2L +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1339975	GRCh37/hg19 8p23.3-23.1(chr8:158048-11936107)x3	AGPAT5, ANGPT2 +64 more	Copy number gain	not provided	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	AP3M2, FAM86B1 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 974794	GRCh37/hg19 8p23.3-23.1(chr8:176814-11472913)x1	DEFB106B, XKR5 +57 more	Copy number loss	Intellectual disability +1 more	GPathogenic
Select item 815084	GRCh37/hg19 8p23.1(chr8:6999219-8641125)x3	CLDN23, DEFB103A +19 more	Copy number gain	not provided	GUncertain significance
Select item 815083	GRCh37/hg19 8p23.1(chr8:6999219-11895232)x3	BLK, C8orf74 +43 more	Copy number gain	not provided	GPathogenic
Select item 815066	GRCh37/hg19 8p23.3-23.1(chr8:158048-9025197)x1	AGPAT5, ANGPT2 +43 more	Copy number loss	not provided	GPathogenic
Select item 815065	GRCh37/hg19 8p23.3-23.1(chr8:158048-8102819)x3	AGPAT5, ANGPT2 +39 more	Copy number gain	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687060	GRCh37/hg19 8p23.3-22(chr8:158048-14214722)x1	AGPAT5, ANGPT2 +75 more	Copy number loss	not provided	GPathogenic
Select item 684955	GRCh37/hg19 8p23.3-23.1(chr8:158048-9393052)x1	AGPAT5, ANGPT2 +43 more	Copy number loss	not provided	GPathogenic
Select item 625669	GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444)	AGPAT5, ANGPT2 +37 more	Copy number loss	Tetralogy of Fallot	GPathogenic
Select item 625668	GRCh37/hg19 8p23.3-22(chr8:194617-13947374)	AGPAT5, ANGPT2 +75 more	Copy number gain	not provided	GPathogenic
Select item 624505	GRCh37/hg19 8p23.3-23.1(chr8:176814-7753583)x1	AGPAT5, ANGPT2 +36 more	Copy number loss	not provided	GLikely pathogenic
Select item 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563551	GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3	AGPAT5, ANGPT2 +76 more	Copy number gain	not provided	GPathogenic
Select item 563550	GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3	AGPAT5, ANGPT2 +75 more	Copy number gain	not provided	GPathogenic
Select item 563548	GRCh37/hg19 8p23.3-22(chr8:168483-13147575)x1,2	MFHAS1, MIR124-1 +73 more	Copy number gain	not provided	GPathogenic
Select item 563547	GRCh37/hg19 8p23.3-23.1(chr8:158048-10939681)x1	AGPAT5, ANGPT2 +53 more	Copy number loss	not provided	GPathogenic
Select item 563545	GRCh37/hg19 8p23.3-23.1(chr8:158048-9750676)x3	AGPAT5, ANGPT2 +44 more	Copy number gain	not provided	GPathogenic
Select item 563541	GRCh37/hg19 8p23.1(chr8:6999219-11898980)x3	BLK, C8orf74 +43 more	Copy number gain	not provided	GPathogenic
Select item 563525	GRCh37/hg19 8p23.1(chr8:6999219-8881836)x3	CLDN23, DEFB103A +21 more	Copy number gain	not provided	GLikely pathogenic
Select item 443921	GRCh37/hg19 8p23.3-23.1(chr8:158048-9749574)x1	AGPAT5, ANGPT2 +44 more	Copy number loss	See cases	GPathogenic
Select item 442870	GRCh37/hg19 8p23.3-22(chr8:158048-13309069)x1	AGPAT5, ANGPT2 +73 more	Copy number loss	See cases	GLikely pathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	NSD3, NSMAF +665 more	Copy number gain	See cases	GPathogenic
Select item 403627	NM_001164457.3(ZNF705G):c.139+11G>C	ZNF705G	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 394656	GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4	AGPAT5, ANGPT2 +86 more	Copy number gain	See cases	GPathogenic
Select item 253407	GRCh37/hg19 8p23.3-22(chr8:158991-13304906)x3	AGPAT5, ANGPT2 +73 more	Copy number gain	See cases	GPathogenic
Select item 252967	GRCh37/hg19 8p23.3-23.1(chr8:164984-11860845)x3	AGPAT5, ANGPT2 +64 more	Copy number gain	See cases	GPathogenic
Select item 161038	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1	AGPAT5, ANGPT2 +166 more	Copy number loss	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	MTUS1-DT, NAT1 +773 more	Copy number loss	See cases	GPathogenic
Select item 161036	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3	AGPAT5, ANGPT2 +166 more	Copy number gain	See cases	GPathogenic
Select item 155181	GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	AGPAT5, ANGPT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 154906	GRCh38/hg38 8p23.1(chr8:7300731-7948701)x1	DEFB103A, DEFB103B +34 more	Copy number loss	See cases	GBenign
Select item 154894	GRCh38/hg38 8p23.1(chr8:6786638-8364508)x3	DEFA1, DEFA1B +73 more	Copy number gain	See cases	GBenign
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154780	GRCh38/hg38 8p23.1(chr8:7256137-7981415)x1	DEFB103A, DEFB103B +43 more	Copy number loss	See cases	GBenign
Select item 154529	GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1	FAM90A24, FAM90A3 +256 more	Copy number loss	See cases	GPathogenic
Select item 154431	GRCh38/hg38 8p23.1(chr8:7311988-8273109)x3	DEFB103A, DEFB103B +48 more	Copy number gain	See cases	GBenign
Select item 154427	GRCh38/hg38 8p23.1(chr8:7381949-7948705)x1	DEFB103A, DEFB103B +28 more	Copy number loss	See cases	GBenign
Select item 154409	GRCh38/hg38 8p23.1(chr8:7195674-7948705)x1	DEFB103A, DEFB103B +41 more	Copy number loss	See cases	GBenign
Select item 154404	GRCh38/hg38 8p23.1(chr8:7311988-7948705)x1	DEFB103A, DEFB103B +34 more	Copy number loss	See cases	GBenign
Select item 154403	GRCh38/hg38 8p23.1(chr8:7311988-7948705)x3	DEFB103A, DEFB103B +34 more	Copy number gain	See cases	GBenign
Select item 154367	GRCh38/hg38 8p23.1(chr8:7381949-7895074)x1	DEFB103A, DEFB103B +27 more	Copy number loss	See cases	GBenign
Select item 154364	GRCh38/hg38 8p23.1(chr8:7311988-7895074)x3	DEFB103A, DEFB103B +33 more	Copy number gain	See cases	GBenign
Select item 154363	GRCh38/hg38 8p23.1(chr8:7311988-8222390)x1	DEFB103A, DEFB103B +42 more	Copy number loss	See cases	GBenign
Select item 154362	GRCh38/hg38 8p23.1(chr8:7311988-8222390)x3	DEFB103A, DEFB103B +42 more	Copy number gain	See cases	GBenign
Select item 154359	GRCh38/hg38 8p23.1(chr8:7311988-7834323)x3	FAM66B, FAM90A10 +29 more	Copy number gain	See cases	GBenign
Select item 154355	GRCh38/hg38 8p23.1(chr8:7311988-7834323)x1	DEFB103B, DEFB104B +29 more	Copy number loss	See cases	GBenign
Select item 154354	GRCh38/hg38 8p23.1(chr8:7195674-7895074)x1	DEFB103A, DEFB103B +40 more	Copy number loss	See cases	GBenign

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