"GeneDx"[submitter] AND "GNB4"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 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 261426	NM_021629.4(GNB4):c.*3G>A	GNB4	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
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 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 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 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 3373583	NM_021629.4(GNB4):c.801C>A (p.Asp267Glu)	GNB4 (D267E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1200411	NM_021629.4(GNB4):c.700-198_700-197del	GNB4	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1195822	NM_021629.4(GNB4):c.700-235T>C	GNB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203381	NM_021629.4(GNB4):c.699+287G>A	GNB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267529	NM_021629.4(GNB4):c.699+221del	GNB4	Deletion (intron variant)	not provided	GBenign
Select item 1208600	NM_021629.4(GNB4):c.699+206dup	GNB4	Duplication (intron variant)	not provided	GLikely benign
Select item 1213506	NM_021629.4(GNB4):c.699+137A>G	GNB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1700746	NM_021629.4(GNB4):c.689A>G (p.Asn230Ser)	GNB4 (N230S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 697879	NM_021629.4(GNB4):c.668C>T (p.Thr223Met)	GNB4 (T223M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F +2 more	GBenign/Likely benign
Select item 1706279	NM_021629.4(GNB4):c.431-60C>T	GNB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293360	NM_021629.4(GNB4):c.431-83T>A	GNB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216676	NM_021629.4(GNB4):c.430+201_430+202del	GNB4	Deletion (intron variant)	not provided	GLikely benign
Select item 1224164	NM_021629.4(GNB4):c.430+154TA[3]	GNB4	Microsatellite (intron variant)	not provided	GBenign
Select item 1188558	NM_021629.4(GNB4):c.430+101G>A	GNB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 702192	NM_021629.4(GNB4):c.375C>T (p.Asn125=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F +1 more	GLikely benign
Select item 1277583	NM_021629.4(GNB4):c.204-67A>G	GNB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260152	NM_021629.4(GNB4):c.204-290C>G	GNB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178365	NM_021629.4(GNB4):c.203+88A>G	GNB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246017	NM_021629.4(GNB4):c.203+85A>G	GNB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 414884	NM_021629.4(GNB4):c.186T>C (p.His62=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F +2 more	GBenign/Likely benign
Select item 261427	NM_021629.4(GNB4):c.117T>C (p.Ser39=)	GNB4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate F +2 more	GBenign
Select item 1280375	NM_021629.4(GNB4):c.96+134C>T	GNB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243945	NM_021629.4(GNB4):c.96+118_96+119del	GNB4	Microsatellite (intron variant)	not provided	GBenign
Select item 414881	NM_021629.4(GNB4):c.58-14dup	GNB4	Duplication (intron variant)	Charcot-Marie-Tooth disease dominant intermediate F +1 more	GBenign
Select item 1185870	NM_021629.4(GNB4):c.58-105_58-103del	GNB4	Deletion (intron variant)	not provided	GLikely benign
Select item 1251713	NM_021629.4(GNB4):c.58-269T>C	GNB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187563	NM_021629.4(GNB4):c.58-273G>C	GNB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 414883	NM_021629.4(GNB4):c.48T>C (p.Asn16=)	GNB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 578762	NM_021629.4(GNB4):c.16C>G (p.Gln6Glu)	GNB4 (Q6E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate F +1 more	GUncertain significance
Select item 1268092	NM_021629.4(GNB4):c.-33C>T	GNB4	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1186743	NM_021629.4(GNB4):c.-42-25T>C	GNB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219546	NM_021629.4(GNB4):c.-42-166del	GNB4	Deletion (intron variant)	not provided	GLikely benign
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 48