285282[geneid] - ClinVar

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Items: 47

	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 154810	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4	ADPRH, ARHGAP31 +101 more	Copy number gain	See cases	GUncertain significance
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 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 145353	GRCh38/hg38 3q13.33(chr3:120286468-121375425)x3	FSTL1, GTF2E1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 149283	GRCh38/hg38 3q13.33(chr3:120601884-121357490)x3	GTF2E1, HGD +11 more	Copy number gain	See cases	GUncertain significance
Select item 150584	GRCh38/hg38 3q13.33(chr3:120641434-121254322)x3	GTF2E1, HGD +10 more	Copy number gain	See cases	GUncertain significance
Select item 3037805	NM_173825.5(RABL3):c.646-8G>C	RABL3	Single nucleotide variant (intron variant)	RABL3-related disorder	GBenign
Select item 2616387	NM_173825.5(RABL3):c.599T>C (p.Phe200Ser)	RABL3 (F200S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2253324	NM_173825.5(RABL3):c.576T>G (p.Asn192Lys)	RABL3 (N192K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3042035	NM_173825.5(RABL3):c.551G>A (p.Arg184Gln)	RABL3 (R184Q)	Single nucleotide variant (missense variant +2 more)	RABL3-related disorder	GLikely benign
Select item 3348736	NM_173825.5(RABL3):c.509A>T (p.Asp170Val)	RABL3 (D170V)	Single nucleotide variant (missense variant +1 more)	RABL3-related disorder	GLikely benign
Select item 3037588	NM_173825.5(RABL3):c.474T>C (p.His158=)	RABL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2628378	NM_173825.5(RABL3):c.457C>G (p.His153Asp)	RABL3 (H153D)	Single nucleotide variant (missense variant +1 more)	RABL3-related disorder	GUncertain significance
Select item 3051462	NM_173825.5(RABL3):c.384-3C>T	RABL3	Single nucleotide variant (intron variant)	RABL3-related disorder	GLikely benign
Select item 2632090	NM_173825.5(RABL3):c.379A>T (p.Asn127Tyr)	RABL3 (N127Y)	Single nucleotide variant (missense variant +1 more)	RABL3-related disorder	GUncertain significance
Select item 2628425	NM_173825.5(RABL3):c.355G>A (p.Val119Met)	RABL3 (V119M)	Single nucleotide variant (missense variant +1 more)	RABL3-related disorder	GUncertain significance
Select item 2632813	NM_173825.5(RABL3):c.293C>T (p.Thr98Ile)	RABL3 (T98I)	Single nucleotide variant (missense variant +1 more)	RABL3-related disorder	GUncertain significance
Select item 3057478	NM_173825.5(RABL3):c.279C>T (p.Phe93=)	RABL3	Single nucleotide variant (synonymous variant +1 more)	RABL3-related disorder	GLikely benign
Select item 3059517	NM_173825.5(RABL3):c.268+6A>G	RABL3	Single nucleotide variant (intron variant)	RABL3-related disorder	GBenign
Select item 2654061	NM_173825.5(RABL3):c.261C>T (p.Ser87=)	RABL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2350388	NM_173825.5(RABL3):c.251T>C (p.Phe84Ser)	RABL3 (F84S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3030482	NM_173825.5(RABL3):c.192A>G (p.Leu64=)	RABL3	Single nucleotide variant (synonymous variant +1 more)	RABL3-related disorder	GLikely benign
Select item 3033296	NM_173825.5(RABL3):c.138+1G>A	RABL3	Single nucleotide variant (splice donor variant)	RABL3-related disorder	GUncertain significance
Select item 694664	NM_173825.5(RABL3):c.107C>A (p.Ser36Ter)	RABL3 (S36*)	Single nucleotide variant (nonsense +1 more)	Pancreatic cancer, susceptibility to, 5	Grisk factor
Select item 3036967	NM_173825.5(RABL3):c.96G>A (p.Leu32=)	RABL3	Single nucleotide variant (synonymous variant +1 more)	RABL3-related disorder	GLikely benign
Select item 3150945	NM_173825.5(RABL3):c.73C>T (p.Leu25Phe)	RABL3 (L25F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3051382	NM_173825.5(RABL3):c.46+6C>T	LOC112872291, RABL3	Single nucleotide variant (intron variant)	RABL3-related disorder	GLikely benign
Select item 3150944	NM_173825.5(RABL3):c.20T>G (p.Val7Gly)	LOC112872291, RABL3 (V7G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312244	NM_173825.5(RABL3):c.7T>A (p.Ser3Thr)	LOC112872291, RABL3 (S3T)	Single nucleotide variant (missense variant +1 more)	not specified	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 1527039	GRCh37/hg19 3q13.33(chr3:119844770-120822965)	FSTL1, GPR156 +6 more	Copy number gain	not specified	GUncertain significance
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 685221	GRCh37/hg19 3q13.33(chr3:120355508-120514171)x3	GTF2E1, HGD +1 more	Copy number gain	not provided	GUncertain significance
Select item 562810	GRCh37/hg19 3q13.33(chr3:119968036-120460741)x3	LRRC58, FSTL1 +3 more	Copy number gain	not provided	GLikely benign
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: 47