FHIT[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2685082	GRCh37/hg19 3p14.2(chr3:60750120-60850878)x1	FHIT	Copy number loss	not provided	GUncertain significance
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 688305	GRCh37/hg19 3p14.2(chr3:60498171-60569065)x3	FHIT	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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 39