1475[geneid] - ClinVar

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Items: 43

	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 1707450	Single allele	CASR, CSTA +45 more	Duplication	not specified	GUncertain significance
Select item 1243366	NC_000003.12:g.122325058T>C	CSTA	Single nucleotide variant	not provided	GBenign
Select item 1234249	NC_000003.12:g.122325236A>G	CSTA	Single nucleotide variant	not provided	GBenign
Select item 3078433	NM_005213.4(CSTA):c.20C>T (p.Ser7Phe)	CSTA (S7F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226339	NM_005213.4(CSTA):c.34G>A (p.Ala12Thr)	CSTA (A12T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3269968	NM_005213.4(CSTA):c.50A>G (p.Gln17Arg)	CSTA (Q17R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 208472	NM_005213.4(CSTA):c.64A>T (p.Lys22Ter)	CSTA (K22*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 29892	NM_005213.4(CSTA):c.67-2A>T	CSTA	Single nucleotide variant (splice acceptor variant)	Peeling skin syndrome 4	GPathogenic
Select item 450304	NM_005213.4(CSTA):c.102_103del (p.Tyr35fs)	CSTA (Y35fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1297253	NM_005213.4(CSTA):c.105C>T (p.Tyr35=)	CSTA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3078432	NM_005213.4(CSTA):c.125A>G (p.Gln42Arg)	CSTA (Q42R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1283419	NM_005213.4(CSTA):c.169-337C>T	CSTA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268987	NM_005213.4(CSTA):c.169-209G>A	CSTA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285997	NM_005213.4(CSTA):c.169-12A>C	CSTA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 208473	NM_005213.4(CSTA):c.172C>T (p.Arg58Ter)	CSTA (R58*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2442677	NM_005213.4(CSTA):c.250G>A (p.Gly84Arg)	CSTA (G84R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 29893	NM_005213.4(CSTA):c.256C>T (p.Gln86Ter)	CSTA (Q86*)	Single nucleotide variant (nonsense)	Peeling skin syndrome 4	GPathogenic
Select item 767925	NM_005213.4(CSTA):c.273G>T (p.Lys91Asn)	CSTA (K91N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2391033	NM_005213.4(CSTA):c.280G>A (p.Glu94Lys)	CSTA (E94K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1232816	NM_005213.4(CSTA):c.287C>T (p.Thr96Met)	CSTA (T96M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3058105	NM_005213.4(CSTA):c.*10C>T	CSTA	Single nucleotide variant (3 prime UTR variant)	CSTA-related disorder	GLikely benign
Select item 3062707	GRCh37/hg19 3q21.1(chr3:121969936-122063811)x3	CASR, CSTA	Copy number gain	not specified	GUncertain significance
Select item 2423002	NC_000003.11:g.(?_121489192)_(125313644_?)dup	ADCY5, CASR +32 more	Duplication	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 2423000	NC_000003.11:g.(?_121994639)_(122060414_?)del	CASR, CSTA	Deletion	Familial hypocalciuric hypercalcemia +1 more	GPathogenic
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	ISY1-RAB43, ITGB5 +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: 43