ClinVar for Gene (Select 84272) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 3062607	GRCh37/hg19 2p22.3(chr2:32437298-34106470)x1	BIRC6, FAM98A +6 more	Copy number loss	not specified	GUncertain significance
Select item 2684431	GRCh37/hg19 2p23.1-22.3(chr2:32083215-32684402)x1	BIRC6, DPY30 +5 more	Copy number loss	not provided	GPathogenic
Select item 2593258	NM_032312.4(YIPF4):c.379A>G (p.Met127Val)	YIPF4 (M127V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548675	NM_032312.4(YIPF4):c.14G>T (p.Gly5Val)	YIPF4 (G5V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492349	NM_032312.4(YIPF4):c.499G>A (p.Val167Ile)	YIPF4 (V167I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357559	NM_032312.4(YIPF4):c.458T>C (p.Leu153Ser)	YIPF4 (L153S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344851	NM_032312.4(YIPF4):c.580G>A (p.Val194Met)	YIPF4 (V194M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313859	NM_032312.4(YIPF4):c.610T>C (p.Phe204Leu)	YIPF4 (F204L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303054	NM_032312.4(YIPF4):c.254T>A (p.Leu85Gln)	YIPF4 (L85Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297974	NM_032312.4(YIPF4):c.364G>T (p.Val122Phe)	YIPF4 (V122F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251416	NM_032312.4(YIPF4):c.321A>C (p.Gln107His)	YIPF4 (Q107H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246963	NM_032312.4(YIPF4):c.392A>G (p.Tyr131Cys)	YIPF4 (Y131C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224912	NM_032312.4(YIPF4):c.460C>A (p.Leu154Met)	YIPF4 (L154M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1808538	GRCh37/hg19 2p22.3(chr2:32194952-32826745)x4	BIRC6, DPY30 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1527803	GRCh37/hg19 2p23.2-21(chr2:29899368-42441440)	ALK, ARHGEF33 +52 more	Copy number loss	not specified	GPathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	GALNT14, GAREM2 +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 988099	NC_000002.11:g.(32289091_32312562)_(32958959_32999928)del	TTC27, BIRC6 +4 more	Deletion	Hereditary spastic paraplegia 4	GLikely pathogenic
Select item 986411	Single allele	TTC27, SLC30A6 +5 more	Deletion	Spastic paraplegia	GUncertain significance
Select item 687302	GRCh37/hg19 2p23.2-22.2(chr2:29940473-36813297)x1	ALK, BIRC6 +21 more	Copy number loss	not provided	GPathogenic
Select item 685336	GRCh37/hg19 2p23.1-22.3(chr2:31958977-33946495)x1	BIRC6, DPY30 +9 more	Copy number loss	not provided	GPathogenic
Select item 625542	GRCh37/hg19 2p22.3(chr2:32339736-32875274)	BIRC6, NLRC4 +4 more	Copy number loss	not provided	GPathogenic
Select item 624541	GRCh37/hg19 2p22.3(chr2:32514528-32806011)x3	BIRC6, YIPF4	Copy number gain	not provided	GLikely benign
Select item 547174	inv(2)(p21p23.2)	RASGRP3, HNRNPLL +52 more	Inversion	Endometrial carcinoma	GLikely pathogenic
Select item 487484	t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)	ALK, ARHGEF33 +52 more	Inversion	Small cell lung carcinoma	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 394466	GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	ALK, ARHGEF33 +70 more	Copy number gain	See cases	GPathogenic
Select item 219087	Single allele	YIPF4, BIRC6 +5 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219060	Single allele	SLC30A6, YIPF4 +3 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219057	Single allele	YIPF4, BIRC6 +4 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 154534	GRCh38/hg38 2p22.3(chr2:32289459-33024069)x3	BIRC6, BIRC6-AS2 +17 more	Copy number gain	See cases	GBenign
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 153430	GRCh38/hg38 2p22.3(chr2:32104942-32501212)x3	BIRC6, LOC129388840 +8 more	Copy number gain	See cases	GUncertain significance
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 148380	GRCh38/hg38 2p22.3(chr2:32107824-32499727)x3	BIRC6, LOC129388840 +8 more	Copy number gain	See cases	GUncertain significance
Select item 60108	GRCh38/hg38 2p23.1-22.3(chr2:31370181-32512769)x1	BIRC6, DPY30 +28 more	Copy number loss	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 44