ClinVar for Gene (Select 59345) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379515	NM_021629.4(GNB4):c.596_598delinsATA (p.Phe199_Val200delinsTyrIle)	GNB4	Indel (missense variant)	not provided	GUncertain significance
Select item 3373583	NM_021629.4(GNB4):c.801C>A (p.Asp267Glu)	GNB4 (D267E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3281772	NM_021629.4(GNB4):c.70G>C (p.Ala24Pro)	GNB4 (A24P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246925	NC_000003.11:g.(?_179138657)_(179143988_?)dup	GNB4	Duplication	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 3068610	NM_021629.4(GNB4):c.232A>C (p.Lys78Gln)	GNB4 (K78Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 3021717	NM_021629.4(GNB4):c.431-5T>C	GNB4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 3014233	NM_021629.4(GNB4):c.756C>T (p.Leu252=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 3013188	NM_021629.4(GNB4):c.203+10T>G	GNB4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 3012448	NM_021629.4(GNB4):c.296G>A (p.Trp99Ter)	GNB4 (W99*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2997300	NM_021629.4(GNB4):c.430+13A>G	GNB4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2995573	NM_021629.4(GNB4):c.916+16C>G	GNB4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2989167	NM_021629.4(GNB4):c.57+7C>A	GNB4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2972990	NM_021629.4(GNB4):c.268-19T>C	GNB4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2971838	NM_021629.4(GNB4):c.847C>T (p.Arg283Cys)	GNB4 (R283C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2967822	NM_021629.4(GNB4):c.745A>C (p.Thr249Pro)	GNB4 (T249P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2967821	NM_021629.4(GNB4):c.747T>C (p.Thr249=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2920906	NM_021629.4(GNB4):c.162C>T (p.His54=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2920801	NM_021629.4(GNB4):c.745_747delinsCCC (p.Thr249Pro)	GNB4 (T249P)	Indel (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2919444	NM_021629.4(GNB4):c.560T>C (p.Val187Ala)	GNB4 (V187A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2917457	NM_021629.4(GNB4):c.699+12G>A	GNB4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2915817	NM_021629.4(GNB4):c.504A>G (p.Leu168=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2909323	NM_021629.4(GNB4):c.449G>A (p.Arg150His)	GNB4 (R150H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2907082	NM_021629.4(GNB4):c.543T>C (p.Thr181=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2898594	NM_021629.4(GNB4):c.431-16A>C	GNB4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2895544	NM_021629.4(GNB4):c.332A>T (p.Tyr111Phe)	GNB4 (Y111F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2894334	NM_021629.4(GNB4):c.58-18C>T	GNB4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2889300	NM_021629.4(GNB4):c.916+20T>G	GNB4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2884822	NM_021629.4(GNB4):c.784_785insC (p.Leu262fs)	GNB4 (L262fs)	Insertion (frameshift variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2882286	NM_021629.4(GNB4):c.380dup (p.Thr128fs)	GNB4 (T128fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2881818	NM_021629.4(GNB4):c.572_575del (p.Leu190_Ser191insTer)	GNB4	Microsatellite (nonsense)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2849227	NM_021629.4(GNB4):c.784T>C (p.Leu262=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2849211	NM_021629.4(GNB4):c.839A>G (p.Lys280Arg)	GNB4 (K280R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2843278	NM_021629.4(GNB4):c.61G>T (p.Ala21Ser)	GNB4 (A21S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2842061	NM_021629.4(GNB4):c.409C>A (p.Arg137=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2823410	NM_021629.4(GNB4):c.254A>G (p.Tyr85Cys)	GNB4 (Y85C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2822392	NM_021629.4(GNB4):c.749G>A (p.Cys250Tyr)	GNB4 (C250Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2815558	NM_021629.4(GNB4):c.388G>C (p.Glu130Gln)	GNB4 (E130Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2782402	NM_021629.4(GNB4):c.339C>T (p.Ala113=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2772971	NM_021629.4(GNB4):c.471T>G (p.Ile157Met)	GNB4 (I157M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2766509	NM_021629.4(GNB4):c.750C>T (p.Cys250=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2757973	NM_021629.4(GNB4):c.403G>A (p.Val135Ile)	GNB4 (V135I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2753477	NM_021629.4(GNB4):c.96+16T>C	GNB4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2743064	NM_021629.4(GNB4):c.58G>C (p.Asp20His)	GNB4 (D20H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2740311	NM_021629.4(GNB4):c.200C>T (p.Ser67Phe)	GNB4 (S67F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2736281	NM_021629.4(GNB4):c.669G>A (p.Thr223=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2726657	NM_021629.4(GNB4):c.848G>A (p.Arg283His)	GNB4 (R283H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2724827	NM_021629.4(GNB4):c.867C>T (p.Tyr289=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2700915	NM_021629.4(GNB4):c.584A>G (p.Asp195Gly)	GNB4 (D195G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2695364	NM_021629.4(GNB4):c.540C>G (p.Phe180Leu)	GNB4 (F180L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2682293	NC_000003.11:g.(?_179113875)_(179169259_?)dup	GNB4	Duplication	not specified	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2654289	NM_021629.4(GNB4):c.266A>C (p.Lys89Thr)	GNB4 (K89T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2619924	NM_021629.4(GNB4):c.700-6G>A	GNB4	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2577143	NC_000003.11:g.(179137294_179138676)_(179169372_?)dup	GNB4	Duplication	not specified	GUncertain significance
Select item 2540196	NM_021629.4(GNB4):c.391_401dup (p.Arg134_Val135insGluMetTer)	GNB4	Duplication (nonsense +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489711	NM_021629.4(GNB4):c.698G>C (p.Ser233Thr)	GNB4 (S233T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432203	NM_021629.4(GNB4):c.431-2A>T	GNB4	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2426679	NC_000003.11:g.(?_179119001)_(179143988_?)dup	GNB4	Duplication	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2293337	NM_021629.4(GNB4):c.824C>T (p.Ser275Phe)	GNB4 (S275F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2198151	NM_021629.4(GNB4):c.268-15_268-11del	GNB4	Microsatellite (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2189125	NM_021629.4(GNB4):c.636T>C (p.Asp212=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2186946	NM_021629.4(GNB4):c.917-20T>C	GNB4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2178653	NM_021629.4(GNB4):c.834C>T (p.Phe278=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2177322	NM_021629.4(GNB4):c.74G>A (p.Cys25Tyr)	GNB4 (C25Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2160427	NM_021629.4(GNB4):c.35A>G (p.Glu12Gly)	GNB4 (E12G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2158938	NM_021629.4(GNB4):c.917-5T>C	GNB4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2157547	NM_021629.4(GNB4):c.752G>A (p.Arg251Gln)	GNB4 (R251Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2142989	NM_021629.4(GNB4):c.204-3T>C	GNB4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2119399	NM_021629.4(GNB4):c.624C>T (p.Ser208=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2117406	NM_021629.4(GNB4):c.641G>A (p.Arg214Gln)	GNB4 (R214Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2081744	NM_021629.4(GNB4):c.431-13C>T	GNB4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2078424	NM_021629.4(GNB4):c.958G>T (p.Val320Leu)	GNB4 (V320L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2065945	NM_021629.4(GNB4):c.96+17C>A	GNB4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2059644	NM_021629.4(GNB4):c.724G>A (p.Ala242Thr)	GNB4 (A242T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2058889	NM_021629.4(GNB4):c.783A>G (p.Leu261=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 2052001	NM_021629.4(GNB4):c.135G>A (p.Met45Ile)	GNB4 (M45I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2039367	NM_021629.4(GNB4):c.368T>C (p.Ile123Thr)	GNB4 (I123T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 2019908	NM_021629.4(GNB4):c.267+20C>A	GNB4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 1983235	NM_021629.4(GNB4):c.1020T>C (p.Asn340=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 1966287	NM_021629.4(GNB4):c.482C>A (p.Ser161Ter)	GNB4 (S161*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 1945421	NM_021629.4(GNB4):c.530C>A (p.Thr177Asn)	GNB4 (T177N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 1935574	NM_021629.4(GNB4):c.919G>T (p.Val307Phe)	GNB4 (V307F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 1923540	NM_021629.4(GNB4):c.201C>T (p.Ser67=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 1915234	NM_021629.4(GNB4):c.863G>C (p.Gly288Ala)	GNB4 (G288A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 1914215	NM_021629.4(GNB4):c.917-15G>C	GNB4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 1912142	NM_021629.4(GNB4):c.789G>A (p.Leu263=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 1909929	NM_021629.4(GNB4):c.957T>G (p.Gly319=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 1906266	NM_021629.4(GNB4):c.402A>G (p.Arg134=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 1805806	NM_021629.4(GNB4):c.834C>A (p.Phe278Leu)	GNB4 (F278L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 1791897	NM_021629.4(GNB4):c.247G>A (p.Asp83Asn)	GNB4 (D83N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1781136	NM_021629.4(GNB4):c.183G>C (p.Met61Ile)	GNB4 (M61I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1780732	NM_021629.4(GNB4):c.181A>T (p.Met61Leu)	GNB4 (M61L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F +1 more	GConflicting classifications of pathogenicity
Select item 1754409	NM_021629.4(GNB4):c.65G>A (p.Arg22Gln)	GNB4 (R22Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1746957	NM_021629.4(GNB4):c.119T>C (p.Val40Ala)	GNB4 (V40A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1737808	NM_021629.4(GNB4):c.409C>T (p.Arg137Ter)	GNB4 (R137*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 1718983	NM_021629.4(GNB4):c.73T>G (p.Cys25Gly)	GNB4 (C25G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 1708297	NM_021629.4(GNB4):c.97-11_97-7del	GNB4	Deletion (intron variant)	See cases	GUncertain significance
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1706279	NM_021629.4(GNB4):c.431-60C>T	GNB4	Single nucleotide variant (intron variant)	not provided	GLikely benign

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