1705[HGNC] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	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
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 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	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 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 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 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	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 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	See cases	GPathogenic
Select item 2410123	NM_175862.5(CD86):c.71C>T (p.Ala24Val)	CD86 (A18V +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3140695	NM_175862.5(CD86):c.217G>C (p.Glu73Gln)	CD86 (E67Q +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3140696	NM_175862.5(CD86):c.218A>G (p.Glu73Gly)	CD86 (E67G +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3140697	NM_175862.5(CD86):c.230G>A (p.Ser77Asn)	CD86 (S71N +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2366783	NM_175862.5(CD86):c.247A>G (p.Met83Val)	CD86 (M1V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3140698	NM_175862.5(CD86):c.394G>A (p.Val132Met)	CD86 (V132M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346994	NM_175862.5(CD86):c.424G>T (p.Val142Leu)	CD86 (V142L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523118	NM_175862.5(CD86):c.452T>C (p.Val151Ala)	CD86 (V69A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389912	NM_175862.5(CD86):c.454T>C (p.Tyr152His)	CD86 (Y70H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385311	NM_175862.5(CD86):c.457A>C (p.Ile153Leu)	CD86 (I153L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546335	NM_175862.5(CD86):c.508A>G (p.Ser170Gly)	CD86 (S58G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307323	NM_175862.5(CD86):c.551G>T (p.Gly184Val)	CD86 (G102V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388104	NM_175862.5(CD86):c.611C>G (p.Ser204Cys)	CD86 (S122C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354638	NM_175862.5(CD86):c.677G>A (p.Arg226Gln)	CD86 (R144Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2247534	NM_175862.5(CD86):c.820A>C (p.Lys274Gln)	CD86 (K274Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140700	NM_175862.5(CD86):c.824G>A (p.Arg275Gln)	CD86 (R163Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2233019	NM_175862.5(CD86):c.830G>A (p.Arg277His)	CD86 (R195H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264890	NM_175862.5(CD86):c.863A>G (p.Glu288Gly)	CD86 (E288G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601737	NM_175862.5(CD86):c.919T>G (p.Ser307Ala)	CD86 (S307A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1227026	NM_175862.5(CD86):c.928G>A (p.Ala310Thr)	CD86 (A198T +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3264889	NM_175862.5(CD86):c.931C>G (p.Gln311Glu)	CD86 (Q229E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140701	NM_175862.5(CD86):c.934C>T (p.Arg312Cys)	CD86 (R200C +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392164	NM_175862.5(CD86):c.935G>A (p.Arg312His)	CD86 (R200H +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 720917	NM_175862.5(CD86):c.967G>A (p.Asp323Asn)	CD86 (D269N +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2423002	NC_000003.11:g.(?_121489192)_(125313644_?)dup	CSTA, ADCY5 +32 more	Duplication	Familial hypocalciuric hypercalcemia +1 more	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 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 687972	GRCh37/hg19 3q13.33-21.1(chr3:121384741-123672180)x3	ADCY5, CASR +23 more	Copy number gain	not provided	GUncertain significance
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 253332	GRCh37/hg19 3q13.33-21.1(chr3:119749810-122459323)x3	IQCB1, FAM162A +28 more	Copy number gain	See cases	GLikely pathogenic

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Items: 44