ClinVar for Gene (Select 51072) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3125301	NM_001301833.4(MEMO1):c.593G>A (p.Arg198His)	MEMO1 (R175H +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 3062610	GRCh37/hg19 2p22.3(chr2:32160722-32330144)x3	DPY30, MEMO1 +1 more	Copy number gain	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 2474369	NM_001301833.4(MEMO1):c.833A>G (p.Gln278Arg)	MEMO1 (Q287R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470634	NM_001301833.4(MEMO1):c.175G>T (p.Ala59Ser)	MEMO1 (A153S +3 more)	Single nucleotide variant (missense variant +4 more)	not specified	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 1375711	NC_000002.11:g.(?_31558824)_(32481844_?)dup	DPY30, MEMO1 +5 more	Duplication	Hereditary spastic paraplegia 4	GUncertain significance
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	HADHA, HADHB +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 916455	NM_001301833.4(MEMO1):c.559T>C (p.Ser187Pro)	MEMO1 (S187P +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 831367	NC_000002.11:g.(?_31558804)_(32481864_?)dup	DPY30, MEMO1 +5 more	Duplication	Familial cold autoinflammatory syndrome 4 +1 more	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 562660	GRCh37/hg19 2p23.2-22.3(chr2:29240004-32380876)x1	SPAST, ALK +14 more	Copy number loss	not provided	GPathogenic
Select item 562584	GRCh37/hg19 2p23.1-22.3(chr2:31949180-32383931)x3	SPAST, MEMO1 +1 more	Copy number gain	not provided	GUncertain significance
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)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +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 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
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 60107	GRCh38/hg38 2p23.1-22.3(chr2:31368632-32087629)x1	DPY30, LINC01946 +19 more	Copy number loss	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 33