6394[HGNC] - ClinVar

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Items: 34

	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 2411068	NM_002264.4(KPNA1):c.1537A>G (p.Ile513Val)	KPNA1, WDR5B-DT (I513V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336289	NM_002264.4(KPNA1):c.1426T>G (p.Tyr476Asp)	KPNA1, WDR5B-DT (Y476D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265181	NM_002264.4(KPNA1):c.1258G>A (p.Val420Ile)	KPNA1, WDR5B-DT (V420I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774847	NM_002264.4(KPNA1):c.1185G>A (p.Arg395=)	KPNA1, WDR5B-DT	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3289234	NM_002264.4(KPNA1):c.1160G>A (p.Ser387Asn)	KPNA1, WDR5B-DT (S387N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116166	NM_002264.4(KPNA1):c.1022A>G (p.Gln341Arg)	KPNA1, WDR5B-DT (Q341R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483890	NM_002264.4(KPNA1):c.889G>A (p.Val297Ile)	KPNA1 (V297I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536028	NM_002264.4(KPNA1):c.772G>T (p.Val258Leu)	KPNA1 (V258L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367142	NM_002264.4(KPNA1):c.636C>G (p.Ile212Met)	KPNA1 (I212M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116168	NM_002264.4(KPNA1):c.517A>G (p.Ile173Val)	KPNA1 (I173V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592452	NM_002264.4(KPNA1):c.271A>T (p.Ile91Leu)	KPNA1 (I91L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245622	NM_002264.4(KPNA1):c.224T>C (p.Met75Thr)	KPNA1 (M75T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116167	NM_002264.4(KPNA1):c.155C>T (p.Thr52Ile)	KPNA1 (T52I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116169	NM_002264.4(KPNA1):c.92A>G (p.Glu31Gly)	KPNA1, LOC126806788 (E31G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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: 34