GNB4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 155645	GRCh38/hg38 3q26.32-26.33(chr3:178391683-179786092)x3	ACTL6A, GNB4 +51 more	Copy number gain	See cases	GLikely benign
Select item 473890	NC_000003.11:g.(?_179118981)_(179144008_?)dup	GNB4	Duplication	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 261426	NM_021629.4(GNB4):c.*3G>A	GNB4	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
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 1494923	NM_021629.4(GNB4):c.981G>A (p.Val327=)	GNB4	Single nucleotide variant (synonymous 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 414882	NM_021629.4(GNB4):c.958G>A (p.Val320Ile)	GNB4 (V320I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F +1 more	GBenign/Likely 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 1144939	NM_021629.4(GNB4):c.952T>C (p.Leu318=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 1016177	NM_021629.4(GNB4):c.941G>A (p.Arg314His)	GNB4 (R314H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F +1 more	GUncertain significance
Select item 582389	NM_021629.4(GNB4):c.939_940del (p.Asn313fs)	GNB4 (N313fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 939896	NM_021629.4(GNB4):c.927T>A (p.Ala309=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 576474	NM_021629.4(GNB4):c.923T>C (p.Leu308Pro)	GNB4 (L308P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 1149386	NM_021629.4(GNB4):c.921C>T (p.Val307=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
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 1098934	NM_021629.4(GNB4):c.918T>G (p.Gly306=)	GNB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1161907	NM_021629.4(GNB4):c.917-12dup	GNB4	Duplication (intron variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 540921	NM_021629.4(GNB4):c.917-4del	GNB4	Deletion (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GBenign
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 1549037	NM_021629.4(GNB4):c.917-49_917-7del	GNB4	Deletion (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 756960	NM_021629.4(GNB4):c.917-10T>C	GNB4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
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 1630434	NM_021629.4(GNB4):c.917-15G>T	GNB4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 1550559	NM_021629.4(GNB4):c.917-19T>C	GNB4	Single nucleotide variant (intron 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 1194837	NM_021629.4(GNB4):c.917-29G>A	GNB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253124	NM_021629.4(GNB4):c.917-138ATT[3]	GNB4	Microsatellite (intron variant)	not provided	GBenign
Select item 1237758	NM_021629.4(GNB4):c.917-138ATT[2]	GNB4	Microsatellite (intron variant)	not provided	GBenign
Select item 1289035	NM_021629.4(GNB4):c.917-150_917-148del	GNB4	Microsatellite (intron variant)	not provided	GBenign
Select item 1271014	NM_021629.4(GNB4):c.917-193C>T	GNB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250799	NM_021629.4(GNB4):c.917-266G>A	GNB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273150	NM_021629.4(GNB4):c.917-292T>C	GNB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253276	NM_021629.4(GNB4):c.916+271G>C	GNB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293441	NM_021629.4(GNB4):c.916+60A>G	GNB4	Single nucleotide variant (intron variant)	not provided	GBenign
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 1579632	NM_021629.4(GNB4):c.916+17A>C	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 1204771	NM_021629.4(GNB4):c.916+10_916+11insG	GNB4	Insertion (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F +1 more	GBenign/Likely benign
Select item 1079622	NM_021629.4(GNB4):c.916+10T>C	GNB4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 473895	NM_021629.4(GNB4):c.916+9A>G	GNB4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 1348136	NM_021629.4(GNB4):c.916+3T>C	GNB4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 1364233	NM_021629.4(GNB4):c.915A>G (p.Ala305=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 657245	NM_021629.4(GNB4):c.911G>A (p.Arg304His)	GNB4 (R304H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 647446	NM_021629.4(GNB4):c.910C>T (p.Arg304Cys)	GNB4 (R304C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 575009	NM_021629.4(GNB4):c.908A>C (p.Asp303Ala)	GNB4 (D303A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1111302	NM_021629.4(GNB4):c.903A>G (p.Lys301=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 540920	NM_021629.4(GNB4):c.903A>T (p.Lys301Asn)	GNB4 (K301N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 1397286	NM_021629.4(GNB4):c.898C>G (p.Leu300Val)	GNB4 (L300V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 705373	NM_021629.4(GNB4):c.897G>A (p.Thr299=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 838151	NM_021629.4(GNB4):c.896C>T (p.Thr299Met)	GNB4 (T299M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
Select item 696693	NM_021629.4(GNB4):c.885T>C (p.Asn295=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
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 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 473894	NM_021629.4(GNB4):c.853T>G (p.Leu285Val)	GNB4 (L285V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 408271	NM_021629.4(GNB4):c.848G>C (p.Arg283Pro)	GNB4 (R283P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
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 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 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 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 941789	NM_021629.4(GNB4):c.826G>A (p.Val276Ile)	GNB4 (V276I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F +1 more	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 1038672	NM_021629.4(GNB4):c.803A>G (p.Asn268Ser)	GNB4 (N268S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F +1 more	GConflicting classifications of pathogenicity
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 1462127	NM_021629.4(GNB4):c.800A>G (p.Asp267Gly)	GNB4 (D267G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 473893	NM_021629.4(GNB4):c.799G>A (p.Asp267Asn)	GNB4 (D267N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1499526	NM_021629.4(GNB4):c.797A>G (p.His266Arg)	GNB4 (H266R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
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 574338	NM_021629.4(GNB4):c.783ATT[1] (p.Leu263del)	GNB4 (L263del)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 1114745	NM_021629.4(GNB4):c.787T>C (p.Leu263=)	GNB4	Single nucleotide variant (synonymous 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 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 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 241390	NM_021629.4(GNB4):c.771A>G (p.Ala257=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F +1 more	GLikely benign
Select item 864387	NM_021629.4(GNB4):c.766C>T (p.Arg256Cys)	GNB4 (R256C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
Select item 640868	NM_021629.4(GNB4):c.759T>G (p.Phe253Leu)	GNB4 (F253L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F	GUncertain significance
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 1118738	NM_021629.4(GNB4):c.756C>G (p.Leu252=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
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 1428077	NM_021629.4(GNB4):c.751C>T (p.Arg251Trp)	GNB4 (R251W)	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 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 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 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 698323	NM_021629.4(GNB4):c.747T>G (p.Thr249=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign
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 1549261	NM_021629.4(GNB4):c.744C>T (p.Ala248=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F	GLikely benign

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