ClinVar for Gene (Select 941) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264880	NM_005191.4(CD80):c.797G>A (p.Cys266Tyr)	CD80 (C266Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264879	NM_005191.4(CD80):c.581A>G (p.Glu194Gly)	CD80 (E194G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264878	NM_005191.4(CD80):c.256G>A (p.Glu86Lys)	CD80 (E86K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140672	NM_005191.4(CD80):c.383G>A (p.Arg128Gln)	CD80 (R128Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594274	NM_005191.4(CD80):c.856C>T (p.Arg286Cys)	CD80 (R286C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2554750	NM_005191.4(CD80):c.781T>C (p.Cys261Arg)	CD80 (C261R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539233	NM_005191.4(CD80):c.259T>C (p.Tyr87His)	CD80 (Y87H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517362	NM_005191.4(CD80):c.671G>A (p.Arg224Lys)	CD80 (R224K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324034	NM_005191.4(CD80):c.440T>C (p.Ile147Thr)	CD80 (I147T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320195	NM_005191.4(CD80):c.653T>C (p.Ile218Thr)	CD80 (I218T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808592	GRCh37/hg19 3q13.31-13.33(chr3:116109191-120328013)x1	ADPRH, ARHGAP31 +20 more	Copy number loss	not provided	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1288301	NM_005191.4(CD80):c.*780A>T	CD80, TIMMDC1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1224718	NM_005191.4(CD80):c.*214T>G	CD80	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 780106	NM_005191.4(CD80):c.297C>G (p.Leu99=)	CD80	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774605	NM_005191.4(CD80):c.664C>T (p.His222Tyr)	CD80 (H222Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 562809	GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1	HCLS1, ARGFX +38 more	Copy number loss	not provided	GPathogenic
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 395633	GRCh37/hg19 3q13.33(chr3:119188677-119500751)x3	ADPRH, CD80 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253772	GRCh37/hg19 3q13.33(chr3:119188677-119500810)x3	CFAP91, PLA1A +7 more	Copy number gain	See cases	GUncertain significance
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 154810	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4	ADPRH, ARHGAP31 +101 more	Copy number gain	See cases	GUncertain significance
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	ADPRH, ARHGAP31 +191 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	LOC129937337, LOC129937338 +199 more	Copy number loss	See cases	GPathogenic
Select item 146286	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4	ADPRH, ARHGAP31 +100 more	Copy number gain	See cases	GUncertain significance
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 33