3701[HGNC] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +155 more	Copy number loss	See cases	GPathogenic
Select item 153923	GRCh38/hg38 3p14.3-14.2(chr3:58498793-60217173)x3	ACOX2, CFAP20DC +23 more	Copy number gain	See cases	GUncertain significance
Select item 57730	GRCh38/hg38 3p14.3-14.2(chr3:58532827-60193441)x3	FAM3D-AS1, ACOX2 +22 more	Copy number gain	See cases	GUncertain significance
Select item 154598	GRCh38/hg38 3p14.3-14.2(chr3:58534847-60199939)x3	ACOX2, CFAP20DC +22 more	Copy number gain	See cases	GUncertain significance
Select item 57731	GRCh38/hg38 3p14.2(chr3:59743673-60984329)x3	FHIT, LOC107325936 +9 more	Copy number gain	See cases	GUncertain significance
Select item 2316911	NM_002012.4(FHIT):c.430G>A (p.Val144Ile)	FHIT (V121I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 721413	NM_002012.4(FHIT):c.426G>A (p.Leu142=)	FHIT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3095085	NM_002012.4(FHIT):c.421G>T (p.Ala141Ser)	FHIT (A141S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095084	NM_002012.4(FHIT):c.412G>A (p.Glu138Lys)	FHIT (E115K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461312	NM_002012.4(FHIT):c.346G>A (p.Glu116Lys)	FHIT (E116K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2289061	NM_002012.4(FHIT):c.341A>G (p.Tyr114Cys)	FHIT (Y114C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2477816	NM_002012.4(FHIT):c.329A>G (p.Asn110Ser)	FHIT (N54S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3049106	NM_002012.4(FHIT):c.301C>T (p.Pro101Ser)	FHIT (P101S +1 more)	Single nucleotide variant (missense variant +2 more)	FHIT-related disorder	GLikely benign
Select item 2463308	NM_002012.4(FHIT):c.242C>G (p.Ser81Cys)	FHIT (S25C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595218	NM_002012.4(FHIT):c.199A>G (p.Thr67Ala)	FHIT (T11A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318205	NM_002012.4(FHIT):c.194T>G (p.Val65Gly)	FHIT (V65G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095083	NM_002012.4(FHIT):c.182C>T (p.Thr61Met)	FHIT (T5M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569910	NM_002012.4(FHIT):c.152G>A (p.Arg51His)	FHIT (R51H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326330	NM_002012.4(FHIT):c.137G>A (p.Arg46His)	FHIT (R46H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462958	NM_002012.4(FHIT):c.116G>A (p.Cys39Tyr)	FHIT (C39Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056428	NM_002012.4(FHIT):c.104-64T>C	FHIT (M1T)	Single nucleotide variant (missense variant +2 more)	FHIT-related disorder	GLikely benign
Select item 144862	GRCh38/hg38 3p14.2(chr3:60102627-60254729)x1	FHIT	Copy number loss	See cases	GBenign
Select item 57355	GRCh38/hg38 3p14.2(chr3:60102627-60855742)x1	FHIT, LOC107325936 +1 more	Copy number loss	See cases	GUncertain significance
Select item 149396	GRCh38/hg38 3p14.2(chr3:60102749-60254925)x1	FHIT	Copy number loss	See cases	GLikely benign
Select item 221696	GRCh38/hg38 3p14.2(chr3:60103588-60251982)x1	FHIT	Copy number loss	Premature ovarian failure	GBenign
Select item 431027	NM_002012.4(FHIT):c.104-196657C>A	FHIT	Single nucleotide variant (intron variant)	Lip and oral cavity carcinoma	Gassociation
Select item 545300	NC_000003.12:g.(?_60389119)_(60571624_?)del	FHIT, LOC107325936	Deletion	Schizophrenia	GLikely pathogenic
Select item 545301	NC_000003.12:g.(?_60408194)_(60672864_?)del	FHIT, LOC107325936 +1 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 545302	NC_000003.12:g.(?_60438915)_(60817364_?)del	FHIT, LOC107325936 +1 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 60084	GRCh38/hg38 3p14.2(chr3:60460013-60532126)x1	FHIT, LOC107325936	Copy number loss	See cases	GUncertain significance
Select item 974727	NM_002012.4(FHIT):c.103+32489_103+54184del	FHIT, LOC107325936	Deletion (intron variant)	Megacolon	GLikely pathogenic
Select item 545303	NC_000003.12:g.(?_60501297)_(60591815_?)del	FHIT, LOC107325936	Deletion	Autism	GLikely pathogenic
Select item 741725	NM_002012.4(FHIT):c.69C>T (p.Phe23=)	FHIT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2568501	NM_002012.4(FHIT):c.56C>T (p.Thr19Ile)	FHIT (T19I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533209	NM_002012.4(FHIT):c.38C>A (p.Ser13Tyr)	FHIT (S13Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362248	NM_002012.4(FHIT):c.25C>G (p.Leu9Val)	FHIT (L9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708320	NM_002012.4(FHIT):c.6G>T (p.Ser2=)	FHIT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 147528	GRCh38/hg38 3p14.2(chr3:60611688-61007410)x1	FHIT, LOC126806697 +2 more	Copy number loss	See cases	GUncertain significance
Select item 154804	GRCh38/hg38 3p14.2(chr3:60855679-61139521)x1	FHIT, LOC122965320 +4 more	Copy number loss	See cases	GUncertain significance
Select item 60085	GRCh38/hg38 3p14.2(chr3:61173973-61402744)x1	FHIT, LOC112935954 +9 more	Copy number loss	See cases	GUncertain significance
Select item 2685082	GRCh37/hg19 3p14.2(chr3:60750120-60850878)x1	FHIT	Copy number loss	not provided	GUncertain significance
Select item 1809355	GRCh37/hg19 3p14.3-14.2(chr3:58498677-60210851)x3	ACOX2, CFAP20DC +3 more	Copy number gain	not provided	GUncertain significance
Select item 1809085	GRCh37/hg19 3p14.2(chr3:59923379-60227870)x1	FHIT, NPCDR1	Copy number loss	not provided	GUncertain significance
Select item 1706492	GRCh37/hg19 3p14.3-14.2(chr3:58498676-60210851)x3	FAM3D, CFAP20DC +4 more	Copy number gain	See cases	GUncertain significance
Select item 1341307	GRCh37/hg19 3p14.2-13(chr3:59332508-70686155)x1	ADAMTS9, ARL6IP5 +24 more	Copy number loss	not provided	GPathogenic
Select item 1340550	GRCh37/hg19 3p14.2(chr3:60750120-60916541)x1	FHIT	Copy number loss	not provided	GUncertain significance
Select item 1340157	GRCh37/hg19 3p14.2(chr3:60350678-60532439)x1	FHIT	Copy number loss	not provided	GLikely benign
Select item 980503	GRCh37/hg19 3p14.2(chr3:60800930-61017464)x1	FHIT	Copy number loss	not provided	GLikely benign
Select item 980502	GRCh37/hg19 3p14.2(chr3:60537596-60897771)x1	FHIT	Copy number loss	not provided	GLikely benign
Select item 814449	GRCh37/hg19 3p14.2-14.1(chr3:60449667-65561638)x1	SYNPR, ATXN7 +11 more	Copy number loss	not provided	GPathogenic
Select item 814448	GRCh37/hg19 3p14.2(chr3:59702127-61021488)x3	FHIT, NPCDR1	Copy number gain	not provided	GLikely benign
Select item 688305	GRCh37/hg19 3p14.2(chr3:60498171-60569065)x3	FHIT	Copy number gain	not provided	GUncertain significance
Select item 687881	GRCh37/hg19 3p14.3-14.2(chr3:58490107-60210773)x3	ACOX2, CFAP20DC +4 more	Copy number gain	not provided	GUncertain significance
Select item 687878	GRCh37/hg19 3p14.3-14.2(chr3:58490107-60210773)x3	ACOX2, CFAP20DC +4 more	Copy number gain	not provided	GUncertain significance
Select item 686949	GRCh37/hg19 3p14.2(chr3:61018890-61066033)x1	FHIT	Copy number loss	not provided	GUncertain significance
Select item 686339	GRCh37/hg19 3p14.2(chr3:59702004-61021526)x3	FHIT, NPCDR1	Copy number gain	not provided	GUncertain significance
Select item 686195	GRCh37/hg19 3p14.3-14.2(chr3:58490107-60210773)x3	ACOX2, CFAP20DC +4 more	Copy number gain	not provided	GUncertain significance
Select item 685671	GRCh37/hg19 3p14.3-14.1(chr3:57076136-65716956)x1	ABHD6, ACOX2 +34 more	Copy number loss	not provided	GPathogenic
Select item 685135	GRCh37/hg19 3p14.2-14.1(chr3:60844727-63983596)x1	ATXN7, C3orf14 +7 more	Copy number loss	not provided	GUncertain significance
Select item 638138	GRCh37/hg19 3p14.2(chr3:59709050-61021526)x3	FHIT, NPCDR1	Copy number gain	See cases	GLikely benign
Select item 562777	GRCh37/hg19 3p14.2(chr3:60640740-60715235)x1	FHIT	Copy number loss	not provided	GLikely benign
Select item 562776	GRCh37/hg19 3p14.2(chr3:60388321-60658961)x3	FHIT	Copy number gain	not provided	GUncertain significance
Select item 562775	GRCh37/hg19 3p14.2(chr3:59179798-60802169)x1	NPCDR1, FHIT	Copy number loss	not provided	GUncertain significance
Select item 562774	GRCh37/hg19 3p14.2(chr3:59096261-60506244)x3	NPCDR1, FHIT	Copy number gain	not provided	GUncertain significance
Select item 562772	GRCh37/hg19 3p14.3-14.2(chr3:58498676-60210851)x3	ACOX2, NPCDR1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 549591	Single allele	NPCDR1, FHIT	Duplication	Primary amenorrhea	GLikely benign
Select item 547139	GRCh37/hg19 3p14.2(chr3:59704192-61011222)x3	FHIT, NPCDR1	Copy number gain	not provided	GLikely benign
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442399	GRCh37/hg19 3p14.2-14.1(chr3:60526226-63742930)x1	CADPS, CEP15 +5 more	Copy number loss	See cases	GLikely pathogenic
Select item 442198	GRCh37/hg19 3p14.2(chr3:61036291-61639996)x3	FHIT, PTPRG	Copy number gain	See cases	GUncertain significance
Select item 441851	GRCh37/hg19 3p14.2(chr3:59702004-61021488)x3	FHIT	Copy number gain	See cases	GUncertain significance
Select item 395666	GRCh37/hg19 3p14.2(chr3:60877562-61231290)x1	FHIT	Copy number loss	See cases	GBenign
Select item 395320	GRCh37/hg19 3p14.2(chr3:60382706-60472496)x1	FHIT	Copy number loss	See cases	GLikely benign
Select item 395200	GRCh37/hg19 3p14.2(chr3:60515742-60629805)x3	FHIT	Copy number gain	See cases	GLikely benign
Select item 394753	GRCh37/hg19 3p14.2(chr3:59858655-60076677)x1	FHIT	Copy number loss	See cases	GUncertain significance
Select item 253794	GRCh37/hg19 3p14.3-14.2(chr3:58494677-60076736)x3	FHIT, NPCDR1 +4 more	Copy number gain	See cases	GUncertain significance

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Items: 79