ClinVar for Gene (Select 79833) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281213	NM_024775.10(GEMIN6):c.454C>G (p.Leu152Val)	GEMIN6 (L152V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099400	NM_024775.10(GEMIN6):c.458C>T (p.Ser153Leu)	GEMIN6 (S153L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099399	NM_024775.10(GEMIN6):c.450T>G (p.Ile150Met)	GEMIN6 (I150M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099396	NM_024775.10(GEMIN6):c.440C>G (p.Ser147Cys)	GEMIN6 (S147C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099395	NM_024775.10(GEMIN6):c.36G>T (p.Trp12Cys)	GEMIN6 (W12C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099394	NM_024775.10(GEMIN6):c.339C>A (p.Asn113Lys)	GEMIN6 (N113K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099393	NM_024775.10(GEMIN6):c.198G>T (p.Gln66His)	GEMIN6 (Q66H)	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 2684453	GRCh37/hg19 2p22.1(chr2:39003525-39080554)x1	DHX57, GEMIN6	Copy number loss	not provided	GUncertain significance
Select item 2619844	NM_024775.10(GEMIN6):c.409C>T (p.Pro137Ser)	GEMIN6 (P137S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550820	NM_024775.10(GEMIN6):c.157G>A (p.Gly53Ser)	GEMIN6 (G53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463469	NM_024775.10(GEMIN6):c.370C>G (p.Pro124Ala)	GEMIN6 (P124A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425393	NC_000002.11:g.(?_37334416)_(39347563_?)dup	ARHGEF33, ATL2 +17 more	Duplication	RASopathy	GPathogenic
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	CAMKMT, CDKL4 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2401160	NM_024775.10(GEMIN6):c.14T>C (p.Met5Thr)	GEMIN6 (M5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400301	NM_024775.10(GEMIN6):c.223G>A (p.Asp75Asn)	GEMIN6 (D75N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304111	NM_024775.10(GEMIN6):c.115C>T (p.Pro39Ser)	GEMIN6 (P39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280925	NM_024775.10(GEMIN6):c.233T>C (p.Val78Ala)	GEMIN6 (V78A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224538	NM_024775.10(GEMIN6):c.463G>T (p.Val155Phe)	GEMIN6 (V155F)	Single nucleotide variant (missense variant)	not specified	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	DNAJC27, DNAJC5G +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 979968	GRCh37/hg19 2p22.2-22.1(chr2:38012532-39548268)x3	GALM, SRSF7 +12 more	Copy number gain	not provided	GUncertain significance
Select item 584365	NC_000002.11:g.(?_38297845)_(39347583_?)dup	ARHGEF33, ATL2 +9 more	Duplication	RASopathy	GUncertain significance
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
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 429039	NC_000002.11:g.38121110_47669522inv	PREPL, PRKCE +52 more	Inversion	Hereditary nonpolyposis colorectal neoplasms	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	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 150617	GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1	ARHGEF33, ATL2 +154 more	Copy number loss	See cases	GPathogenic
Select item 149818	GRCh38/hg38 2p22.2-22.1(chr2:38105199-38892257)x3	ARHGEF33, ATL2 +36 more	Copy number gain	See cases	GUncertain significance
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 39