Related gene-specific medical variations for Gene (Select 2272) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 974727	NM_002012.4(FHIT):c.103+32489_103+54184del	FHIT, LOC107325936	Deletion (intron variant)	Megacolon	GLikely pathogenic
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
Select item 221696	GRCh38/hg38 3p14.2(chr3:60103588-60251982)x1	FHIT	Copy number loss	Premature ovarian failure	GBenign
Select item 149396	GRCh38/hg38 3p14.2(chr3:60102749-60254925)x1	FHIT	Copy number loss	See cases	GLikely benign
Select item 144862	GRCh38/hg38 3p14.2(chr3:60102627-60254729)x1	FHIT	Copy number loss	See cases	GBenign