Related gene-specific medical variations for Gene (Select 79783) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062990	GRCh37/hg19 7p14.1(chr7:40302290-40533666)x1	SUGCT	Copy number loss	not specified	GUncertain significance
Select item 3062956	GRCh37/hg19 7p14.1(chr7:40258930-40397575)x1	SUGCT	Copy number loss	not specified	GUncertain significance
Select item 2985477	NM_001193313.2(SUGCT):c.25G>A (p.Ala9Thr)	LOC129998297, SUGCT (A9T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2274288	NM_001193313.2(SUGCT):c.7G>C (p.Ala3Pro)	LOC129998297, SUGCT (A3P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2001190	NM_001193313.2(SUGCT):c.57C>T (p.Gly19=)	LOC129998297, SUGCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1809329	GRCh37/hg19 7p14.1(chr7:40438477-40491628)x1	SUGCT	Copy number loss	not provided	GUncertain significance
Select item 1809308	GRCh37/hg19 7p14.1(chr7:40438477-40493899)x1	SUGCT	Copy number loss	not provided	GUncertain significance
Select item 1527355	GRCh37/hg19 7p14.1(chr7:40443489-40505333)	SUGCT	Copy number loss	not specified	GUncertain significance
Select item 1527354	GRCh37/hg19 7p14.1(chr7:40260011-40399193)	SUGCT	Copy number loss	not specified	GUncertain significance
Select item 1527353	GRCh37/hg19 7p14.1(chr7:40242536-40318446)	SUGCT	Copy number loss	not specified	GUncertain significance
Select item 979758	GRCh37/hg19 7p14.1(chr7:40274816-40368260)x1	SUGCT	Copy number loss	not provided	GUncertain significance
Select item 979756	GRCh37/hg19 7p14.1(chr7:40454089-40542932)x1	SUGCT	Copy number loss	not provided	GLikely benign
Select item 814967	GRCh37/hg19 7p14.1(chr7:40438476-40493899)x1	SUGCT	Copy number loss	not provided	GUncertain significance
Select item 814966	GRCh37/hg19 7p14.1(chr7:40383663-40554970)x1	SUGCT	Copy number loss	not provided	GUncertain significance
Select item 814965	GRCh37/hg19 7p14.1(chr7:40330502-40398502)x1	SUGCT	Copy number loss	not provided	GUncertain significance
Select item 814964	GRCh37/hg19 7p14.1(chr7:40216274-40270110)x1	SUGCT	Copy number loss	not provided	GUncertain significance
Select item 814963	GRCh37/hg19 7p14.1(chr7:40175537-40444759)x1	SUGCT	Copy number loss	not provided	GUncertain significance
Select item 688860	GRCh37/hg19 7p14.1(chr7:40242536-40288569)x1	SUGCT	Copy number loss	not provided	GPathogenic
Select item 688539	GRCh37/hg19 7p14.1(chr7:40473798-40522693)x1	SUGCT	Copy number loss	not provided	GPathogenic
Select item 687971	GRCh37/hg19 7p14.1(chr7:40438476-40493996)x1	SUGCT	Copy number loss	not provided	GPathogenic
Select item 686995	GRCh37/hg19 7p14.1(chr7:40438476-40493996)x1	SUGCT	Copy number loss	not provided	GPathogenic
Select item 686704	GRCh37/hg19 7p14.1(chr7:40237080-40340056)x3	SUGCT	Copy number gain	not provided	GUncertain significance
Select item 686037	GRCh37/hg19 7p14.1(chr7:40438476-40493996)x1	SUGCT	Copy number loss	not provided	GPathogenic
Select item 685396	GRCh37/hg19 7p14.1(chr7:40288383-40402110)x3	SUGCT	Copy number gain	not provided	GUncertain significance
Select item 563320	GRCh37/hg19 7p14.1(chr7:40318541-40542932)x1	SUGCT	Copy number loss	not provided	GUncertain significance
Select item 559296	NM_001193313.2(SUGCT):c.-6C>T	LOC129998297, SUGCT (H6Y)	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 559087	NM_001193313.2(SUGCT):c.54C>A (p.Ser18=)	LOC129998297, SUGCT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 151577	GRCh38/hg38 7p14.1(chr7:40217013-40238467)x1	SUGCT	Copy number loss	See cases	GLikely benign

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Links from Gene

Items: 28