CGB5[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 2458343	NM_033043.2(CGB5):c.65A>G (p.Lys22Arg)	CGB5 (K22R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 769980	NM_033043.2(CGB5):c.72G>A (p.Pro24=)	CGB5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3143885	NM_033043.2(CGB5):c.77G>A (p.Arg26Gln)	CGB5 (R26Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143886	NM_033043.2(CGB5):c.89G>A (p.Arg30His)	CGB5 (R30H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143883	NM_033043.2(CGB5):c.145G>A (p.Val49Ile)	CGB5 (V49I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266721	NM_033043.2(CGB5):c.170A>T (p.Tyr57Phe)	CGB5 (Y57F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518725	NM_033043.2(CGB5):c.182T>G (p.Met61Arg)	CGB5 (M61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255322	NM_033043.2(CGB5):c.227T>C (p.Val76Ala)	CGB5 (V76A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266717	NM_033043.2(CGB5):c.233A>C (p.Asn78Thr)	CGB5 (N78T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2273129	NM_033043.2(CGB5):c.272G>T (p.Gly91Val)	CGB5 (G91V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769981	NM_033043.2(CGB5):c.306C>T (p.Tyr102=)	CGB5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3266718	NM_033043.2(CGB5):c.379C>G (p.Pro127Ala)	CGB5 (P127A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357790	NM_033043.2(CGB5):c.396C>G (p.Asp132Glu)	CGB5 (D132E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382882	NM_033043.2(CGB5):c.415T>C (p.Ser139Pro)	CGB5 (S139P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466949	NM_033043.2(CGB5):c.428C>G (p.Ala143Gly)	CGB5 (A143G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143884	NM_033043.2(CGB5):c.436C>G (p.Pro146Ala)	CGB5 (P146A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463025	NM_033043.2(CGB5):c.441C>G (p.Ser147Arg)	CGB5 (S147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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

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Items: 30