CGB7[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3143894	NM_001385261.1(CGB7):c.482C>A (p.Pro161Gln)	CGB7 (P161Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266722	NM_001385261.1(CGB7):c.467G>C (p.Gly156Ala)	CGB7 (G156A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217568	NM_001385261.1(CGB7):c.463C>G (p.Pro155Ala)	CGB7 (P155A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339393	NM_001385261.1(CGB7):c.455C>T (p.Ser152Phe)	CGB7 (S152F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143893	NM_001385261.1(CGB7):c.437C>T (p.Pro146Leu)	CGB7 (P146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477042	NM_001385261.1(CGB7):c.433C>G (p.Pro145Ala)	CGB7 (P145A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143892	NM_001385261.1(CGB7):c.344G>A (p.Arg115His)	CGB7 (R115H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409356	NM_001385261.1(CGB7):c.334C>T (p.Leu112Phe)	CGB7 (L112F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143891	NM_001385261.1(CGB7):c.326A>T (p.Gln109Leu)	CGB7 (Q109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143890	NM_001385261.1(CGB7):c.278C>T (p.Pro93Leu)	CGB7 (P93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411386	NM_001385261.1(CGB7):c.263G>A (p.Arg88Gln)	CGB7 (R88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390097	NM_001385261.1(CGB7):c.262C>T (p.Arg88Trp)	CGB7 (R88W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143889	NM_001385261.1(CGB7):c.253G>A (p.Glu85Lys)	CGB7 (E85K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606736	NM_001385261.1(CGB7):c.247C>T (p.Arg83Cys)	CGB7 (R83C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143888	NM_001385261.1(CGB7):c.233A>C (p.Asn78Thr)	CGB7 (N78T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143887	NM_001385261.1(CGB7):c.218C>T (p.Pro73Leu)	CGB7 (P73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280477	NM_001385261.1(CGB7):c.209C>T (p.Pro70Leu)	CGB7 (P70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308382	NM_001385261.1(CGB7):c.203T>C (p.Val68Ala)	CGB7 (V68A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2468462	NM_001385261.1(CGB7):c.187C>T (p.Arg63Cys)	CGB7 (R63C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266670	NM_001385261.1(CGB7):c.161G>T (p.Cys54Phe)	CGB7 (C54F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3239054	NM_001385261.1(CGB7):c.93C>G (p.Pro31=)	CGB7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2454249	NM_001385261.1(CGB7):c.74T>C (p.Leu25Pro)	CGB7 (L25P)	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: 34