RASGRP3[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 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 236028	NM_170672.3(RASGRP3):c.-261+9727G>T	RASGRP3	Single nucleotide variant (intron variant)	Lip and oral cavity carcinoma	Gassociation
Select item 3312942	NM_001139488.2(RASGRP3):c.16C>T (p.Leu6Phe)	RASGRP3 (L6F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151860	NM_001139488.2(RASGRP3):c.169T>G (p.Cys57Gly)	RASGRP3 (C57G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457733	NM_001139488.2(RASGRP3):c.174G>A (p.Met58Ile)	RASGRP3 (M58I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226563	NM_001139488.2(RASGRP3):c.179G>A (p.Arg60Gln)	RASGRP3 (R60Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 750744	NM_001139488.2(RASGRP3):c.231C>T (p.Phe77=)	RASGRP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3151865	NM_001139488.2(RASGRP3):c.349C>T (p.Leu117Phe)	RASGRP3 (L117F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238158	NM_001139488.2(RASGRP3):c.387G>A (p.Met129Ile)	RASGRP3 (M129I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783973	NM_001139488.2(RASGRP3):c.417C>T (p.Ser139=)	RASGRP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3151866	NM_001139488.2(RASGRP3):c.676A>G (p.Ile226Val)	RASGRP3 (I226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270176	NM_001139488.2(RASGRP3):c.680A>G (p.Asn227Ser)	RASGRP3 (N227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310227	NM_001139488.2(RASGRP3):c.685G>A (p.Ala229Thr)	RASGRP3 (A229T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312943	NM_001139488.2(RASGRP3):c.755C>A (p.Ser252Tyr)	RASGRP3 (S252Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322284	NM_001139488.2(RASGRP3):c.764G>A (p.Arg255His)	RASGRP3 (R255H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319154	NM_001139488.2(RASGRP3):c.856A>C (p.Asn286His)	RASGRP3 (N286H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388568	NM_001139488.2(RASGRP3):c.857A>G (p.Asn286Ser)	RASGRP3 (N286S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296354	NM_001139488.2(RASGRP3):c.866A>G (p.Lys289Arg)	RASGRP3 (K289R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360937	NM_001139488.2(RASGRP3):c.877G>A (p.Asp293Asn)	RASGRP3 (D293N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218108	NM_001139488.2(RASGRP3):c.891C>G (p.Phe297Leu)	RASGRP3 (F297L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650821	NM_001139488.2(RASGRP3):c.903C>A (p.Ile301=)	RASGRP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621441	NM_001139488.2(RASGRP3):c.1111G>C (p.Asp371His)	RASGRP3 (D371H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269702	NM_001139488.2(RASGRP3):c.1244C>A (p.Thr415Lys)	RASGRP3 (T414K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348845	NM_001139488.2(RASGRP3):c.1295A>G (p.Tyr432Cys)	RASGRP3 (Y431C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151857	NM_001139488.2(RASGRP3):c.1366G>A (p.Asp456Asn)	RASGRP3 (D456N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151858	NM_001139488.2(RASGRP3):c.1457A>G (p.His486Arg)	RASGRP3 (H485R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151859	NM_001139488.2(RASGRP3):c.1500G>T (p.Met500Ile)	RASGRP3 (M500I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 763499	NM_001139488.2(RASGRP3):c.1503C>T (p.Thr501=)	RASGRP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606448	NM_001139488.2(RASGRP3):c.1592A>G (p.Asn531Ser)	RASGRP3, RASGRP3-AS1 (N531S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343946	NM_001139488.2(RASGRP3):c.1646G>A (p.Arg549Gln)	RASGRP3, RASGRP3-AS1 (R549Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214926	NM_001139488.2(RASGRP3):c.1694C>G (p.Ser565Trp)	RASGRP3, RASGRP3-AS1 (S565W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490498	NM_001139488.2(RASGRP3):c.1721T>C (p.Phe574Ser)	RASGRP3, RASGRP3-AS1 (F573S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151862	NM_001139488.2(RASGRP3):c.1780G>A (p.Val594Ile)	RASGRP3, RASGRP3-AS1 (V593I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151863	NM_001139488.2(RASGRP3):c.1792T>C (p.Ser598Pro)	RASGRP3, RASGRP3-AS1 (S597P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531126	NM_001139488.2(RASGRP3):c.1795C>T (p.Arg599Cys)	RASGRP3, RASGRP3-AS1 (R598C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539757	NM_001139488.2(RASGRP3):c.1931C>T (p.Ala644Val)	RASGRP3, RASGRP3-AS1 (A643V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487174	NM_001139488.2(RASGRP3):c.1951G>T (p.Ala651Ser)	RASGRP3, RASGRP3-AS1 (A651S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151864	NM_001139488.2(RASGRP3):c.1982A>G (p.His661Arg)	RASGRP3, RASGRP3-AS1 (H661R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457432	NM_001139488.2(RASGRP3):c.2005C>T (p.Arg669Trp)	RASGRP3, RASGRP3-AS1 (R668W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
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 814232	GRCh37/hg19 2p22.3(chr2:33722512-35207386)x3	RASGRP3, FAM98A	Copy number gain	not provided	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 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

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Items: 60