GNB2[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +230 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 3368275	NM_005273.4(GNB2):c.-89-9_-64del	GNB2, LOC129998974	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 2673116	NM_005273.4(GNB2):c.92C>G (p.Thr31Ser)	GNB2 (T31S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1907457	NM_005273.4(GNB2):c.149C>T (p.Thr50Ile)	GNB2 (T50I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707077	NM_005273.4(GNB2):c.151C>A (p.Leu51Ile)	GNB2 (L51I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185051	NM_005273.4(GNB2):c.155G>T (p.Arg52Leu)	GNB2 (R52L)	Single nucleotide variant (missense variant)	Sick sinus syndrome 4	GPathogenic
Select item 1217305	NM_005273.4(GNB2):c.217G>A (p.Ala73Thr)	GNB2 (A73T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and dysmorphic facies	GPathogenic/Likely pathogenic
Select item 1215860	NM_005273.4(GNB2):c.229G>C (p.Gly77Arg)	GNB2 (G77R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013609	NM_005273.4(GNB2):c.229G>T (p.Gly77Trp)	GNB2 (G77W)	Single nucleotide variant (missense variant)	Global developmental delay	GLikely pathogenic
Select item 977754	NM_005273.4(GNB2):c.229G>A (p.Gly77Arg)	GNB2 (G77R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and dysmorphic facies +2 more	GPathogenic
Select item 2182855	NM_005273.4(GNB2):c.261CAA[1] (p.Asn88del)	GNB2 (N88del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1217306	NM_005273.4(GNB2):c.265A>G (p.Lys89Glu)	GNB2 (K89E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and dysmorphic facies	GPathogenic
Select item 1217307	NM_005273.4(GNB2):c.266A>C (p.Lys89Thr)	GNB2 (K89T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and dysmorphic facies	GPathogenic
Select item 1195386	NM_005273.4(GNB2):c.268-11C>G	GNB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2381585	NM_005273.4(GNB2):c.268G>A (p.Val90Ile)	GNB2 (V90I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1723526	NM_005273.4(GNB2):c.271C>G (p.His91Asp)	GNB2 (H91D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429882	NM_005273.4(GNB2):c.284T>C (p.Leu95Pro)	GNB2 (L95P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and dysmorphic facies	GLikely pathogenic
Select item 2476008	NM_005273.4(GNB2):c.316G>A (p.Ala106Thr)	GNB2 (A106T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1512564	NM_005273.4(GNB2):c.326G>A (p.Gly109Glu)	GNB2 (G109E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2859535	NM_005273.4(GNB2):c.357C>A (p.Asn119Lys)	GNB2 (N119K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2493362	NM_005273.4(GNB2):c.373A>G (p.Ser125Gly)	GNB2 (S125G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308832	NM_005273.4(GNB2):c.385C>T (p.Arg129Cys)	GNB2 (R129C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100600	NM_005273.4(GNB2):c.386G>A (p.Arg129His)	GNB2 (R129H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204349	NM_005273.4(GNB2):c.448C>T (p.Arg150Cys)	GNB2 (R150C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309249	NM_005273.4(GNB2):c.451T>A (p.Phe151Ile)	GNB2 (F151I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500412	NM_005273.4(GNB2):c.468A>C (p.Gln156His)	GNB2 (Q156H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2657757	NM_005273.4(GNB2):c.497+3G>A	GNB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3281771	NM_005273.4(GNB2):c.532G>A (p.Val178Met)	GNB2 (V178M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1800883	NM_005273.4(GNB2):c.535G>A (p.Gly179Ser)	GNB2 (G179S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2227562	NM_005273.4(GNB2):c.593C>T (p.Thr198Met)	GNB2 (T198M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1391879	NM_005273.4(GNB2):c.593C>A (p.Thr198Lys)	GNB2 (T198K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712783	NM_005273.4(GNB2):c.691G>A (p.Ala231Thr)	GNB2 (A231T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3352477	NM_005273.4(GNB2):c.702C>T (p.Phe234=)	GNB2	Single nucleotide variant (synonymous variant)	GNB2-related disorder	GLikely benign
Select item 1318509	NM_005273.4(GNB2):c.740A>C (p.Asp247Ala)	GNB2 (D247A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2657758	NM_005273.4(GNB2):c.771C>G (p.Ala257=)	GNB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1805976	NM_005273.4(GNB2):c.784C>T (p.Leu262Phe)	GNB2 (L262F)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and dysmorphic facies	GUncertain significance
Select item 3100601	NM_005273.4(GNB2):c.787A>G (p.Met263Val)	GNB2 (M263V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397387	NM_005273.4(GNB2):c.788T>C (p.Met263Thr)	GNB2 (M263T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2631889	NM_005273.4(GNB2):c.789G>C (p.Met263Ile)	GNB2 (M263I)	Single nucleotide variant (missense variant)	GNB2-related disorder	GUncertain significance
Select item 3028901	NM_005273.4(GNB2):c.803A>T (p.Asn268Ile)	GNB2 (N268I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and dysmorphic facies	GLikely pathogenic
Select item 2600821	NM_005273.4(GNB2):c.928G>A (p.Gly310Ser)	GNB2 (G310S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657759	NM_005273.4(GNB2):c.954C>T (p.Leu318=)	GNB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1696443	NM_005273.4(GNB2):c.1006C>G (p.Leu336Val)	GNB2 (L336V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2272809	NM_005273.4(GNB2):c.1014C>G (p.Ile338Met)	GNB2 (I338M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657760	NM_005273.4(GNB2):c.*13del	GNB2	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +75 more	Deletion	not provided	GUncertain significance
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 69