17753[HGNC] - ClinVar

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

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 151714	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	ADH1A, ADH1B +123 more	Copy number loss	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 57375	GRCh38/hg38 4q22.3-23(chr4:97580187-98539015)x3	LOC121053189, LOC123477791 +8 more	Copy number gain	See cases	GUncertain significance
Select item 57892	GRCh38/hg38 4q23(chr4:97972342-100038125)x3	ADH1A, ADH1B +59 more	Copy number gain	See cases	GUncertain significance
Select item 710954	NM_005723.4(TSPAN5):c.742-10C>T	TSPAN5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3183846	NM_005723.4(TSPAN5):c.610G>A (p.Ala204Thr)	TSPAN5 (A204T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786042	NM_005723.4(TSPAN5):c.555C>T (p.Ser185=)	TSPAN5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2412331	NM_005723.4(TSPAN5):c.325G>A (p.Gly109Arg)	TSPAN5 (G109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311135	NM_005723.4(TSPAN5):c.320C>T (p.Thr107Ile)	TSPAN5 (T107I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366231	NM_005723.4(TSPAN5):c.286G>A (p.Val96Met)	TSPAN5 (V96M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161639	NM_005723.4(TSPAN5):c.268C>A (p.Leu90Ile)	TSPAN5 (L90I)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2221717	NM_005723.4(TSPAN5):c.125A>G (p.Asn42Ser)	TSPAN5 (N42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062757	GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1	ADH1A, ADH1B +39 more	Copy number loss	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 1808916	GRCh37/hg19 4q23(chr4:98801255-99413684)x1	RAP1GDS1, STPG2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1340302	GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3	ADH1A, ADH1B +55 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 980109	GRCh37/hg19 4q22.2-24(chr4:94692345-101308220)x1	RAP1GDS1, UNC5C +26 more	Copy number loss	not provided	GLikely pathogenic
Select item 687329	GRCh37/hg19 4q23(chr4:99513451-99603864)x3	TSPAN5	Copy number gain	not provided	GUncertain significance
Select item 686424	GRCh37/hg19 4q23(chr4:99521332-99600079)x3	TSPAN5	Copy number gain	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 443286	GRCh37/hg19 4q22.1-24(chr4:92201567-103043808)x1	ADH1A, ADH1B +30 more	Copy number loss	See cases	GPathogenic
Select item 442315	GRCh37/hg19 4q22.3-23(chr4:97419923-99923880)x3	EIF4E, METAP1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 441914	GRCh37/hg19 4q23(chr4:99288284-99846320)x3	EIF4E, RAP1GDS1 +1 more	Copy number gain	See cases	GLikely benign
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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: 29