ClinVar for Gene (Select 92906) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3106425	NM_138394.4(HNRNPLL):c.737G>A (p.Arg246His)	HNRNPLL (R246H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106424	NM_138394.4(HNRNPLL):c.28G>A (p.Glu10Lys)	HNRNPLL (E10K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106423	NM_138394.4(HNRNPLL):c.232G>C (p.Val78Leu)	HNRNPLL (V73L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106422	NM_138394.4(HNRNPLL):c.211A>C (p.Lys71Gln)	HNRNPLL (K71Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106421	NM_138394.4(HNRNPLL):c.118G>A (p.Glu40Lys)	HNRNPLL (E40K +1 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 2607097	NM_138394.4(HNRNPLL):c.639A>C (p.Glu213Asp)	HNRNPLL (E213D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2535736	NM_138394.4(HNRNPLL):c.179T>G (p.Phe60Cys)	HNRNPLL (F55C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517034	NM_138394.4(HNRNPLL):c.511C>T (p.Leu171Phe)	HNRNPLL (L166F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486846	NM_138394.4(HNRNPLL):c.23C>G (p.Pro8Arg)	HNRNPLL (P8R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486609	NM_138394.4(HNRNPLL):c.163G>A (p.Gly55Ser)	HNRNPLL (G50S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486548	NM_138394.4(HNRNPLL):c.80C>T (p.Thr27Ile)	HNRNPLL (T22I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477452	NM_138394.4(HNRNPLL):c.1107G>T (p.Lys369Asn)	HNRNPLL (K364N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473195	NM_138394.4(HNRNPLL):c.1449C>G (p.Ile483Met)	HNRNPLL (I478M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464797	NM_138394.4(HNRNPLL):c.946G>A (p.Ala316Thr)	HNRNPLL (A311T +1 more)	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 2422363	NC_000002.11:g.(?_38297865)_(38917056_?)del	ATL2, CYP1B1 +2 more	Deletion	Congenital glaucoma	GPathogenic
Select item 2368158	NM_138394.4(HNRNPLL):c.1448T>C (p.Ile483Thr)	HNRNPLL (I478T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253434	NM_138394.4(HNRNPLL):c.856T>C (p.Phe286Leu)	HNRNPLL (F281L +1 more)	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 979969	GRCh37/hg19 2p22.2-22.1(chr2:38154799-38849931)x1	HNRNPLL, RMDN2 +2 more	Copy number loss	not provided	GUncertain significance
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 687611	GRCh37/hg19 2p22.1(chr2:38791220-38861082)x3	HNRNPLL	Copy number gain	not provided	GUncertain significance
Select item 686954	GRCh37/hg19 2p22.1(chr2:38791220-38861082)x3	HNRNPLL	Copy number gain	not provided	GUncertain significance
Select item 686481	GRCh37/hg19 2p22.1(chr2:38791220-38861082)x3	HNRNPLL	Copy number gain	not provided	GUncertain significance
Select item 686405	GRCh37/hg19 2p22.1(chr2:38819908-38932694)x3	GALM, HNRNPLL	Copy number gain	not provided	GUncertain significance
Select item 686358	GRCh37/hg19 2p22.1(chr2:38791220-38861082)x3	HNRNPLL	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	ABCG5, KCNG3 +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: 46