CGB2[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 2375446	NM_033378.2(CGB2):c.43G>A (p.Gly15Arg)	CGB2 (G15R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235471	NM_033378.2(CGB2):c.55T>C (p.Ser19Pro)	CGB2 (S7P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143880	NM_033378.2(CGB2):c.76C>T (p.Arg26Trp)	CGB2 (R14W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143881	NM_033378.2(CGB2):c.98C>T (p.Thr33Ile)	CGB2 (T33I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458577	NM_033378.2(CGB2):c.142A>G (p.Asn48Asp)	CGB2 (N36D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208026	NM_033378.2(CGB2):c.208C>G (p.Leu70Val)	CGB2 (L58V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3266716	NM_033378.2(CGB2):c.319C>A (p.Gln107Lys)	CGB2 (Q95K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473443	NM_033378.2(CGB2):c.320A>G (p.Gln107Arg)	CGB2 (Q107R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2473444	NM_033378.2(CGB2):c.321A>C (p.Gln107His)	CGB2 (Q95H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2622581	NM_033378.2(CGB2):c.328C>T (p.Leu110Phe)	CGB2 (L98F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454848	NM_033378.2(CGB2):c.390C>A (p.Asp130Glu)	CGB2 (D118E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769979	NM_033378.2(CGB2):c.404C>A (p.Ala135Asp)	CGB2 (A123D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2211433	NM_033378.2(CGB2):c.422C>G (p.Ala141Gly)	CGB2 (A141G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143879	NM_033378.2(CGB2):c.427C>T (p.Pro143Ser)	CGB2 (P131S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520157	NM_033378.2(CGB2):c.463C>T (p.Pro155Ser)	CGB2 (P155S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650231	NM_033378.2(CGB2):c.468A>G (p.Ser156=)	CGB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2426330	NC_000019.9:g.(?_49472545)_(49714755_?)del	C19orf73, CGB1 +15 more	Deletion	Progressive familial heart block type IB	GUncertain significance
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	ADM5, ALDH16A1 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	HSD17B14, IZUMO1 +58 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394595	GRCh37/hg19 19q13.33(chr19:49519850-49558959)x3	CGB1, CGB2 +5 more	Copy number gain	See cases	GBenign
Select item 394479	GRCh37/hg19 19q13.33(chr19:49535281-49540108)x3	CGB1, CGB2	Copy number gain	See cases	GBenign/Likely benign

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Items: 30