ClinVar for Gene (Select 114335) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3143878	NM_033377.2(CGB1):c.436C>T (p.Leu146Phe)	CGB1 (L134F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143877	NM_033377.2(CGB1):c.435C>G (p.Ser145Arg)	CGB1 (S133R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143876	NM_033377.2(CGB1):c.422C>T (p.Ala141Val)	CGB1 (A141V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143875	NM_033377.2(CGB1):c.283A>G (p.Asn95Asp)	CGB1 (N83D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143874	NM_033377.2(CGB1):c.281T>G (p.Val94Gly)	CGB1 (V82G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143873	NM_033377.2(CGB1):c.280G>C (p.Val94Leu)	CGB1 (V94L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143872	NM_033377.2(CGB1):c.176T>C (p.Met59Thr)	CGB1 (M59T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143871	NM_033377.2(CGB1):c.124C>G (p.Pro42Ala)	CGB1 (P42A +1 more)	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 2650232	NM_033377.2(CGB1):c.205G>C (p.Ala69Pro)	CGB1 (A57P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2622491	NM_033377.2(CGB1):c.452G>A (p.Arg151His)	CGB1 (R139H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553130	NM_033377.2(CGB1):c.185T>G (p.Val62Gly)	CGB1 (V50G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540111	NM_033377.2(CGB1):c.148A>C (p.Thr50Pro)	CGB1 (T38P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535718	NM_033377.2(CGB1):c.452G>C (p.Arg151Pro)	CGB1 (R139P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476356	NM_033377.2(CGB1):c.430C>G (p.Pro144Ala)	CGB1 (P144A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2385428	NM_033377.2(CGB1):c.247G>C (p.Glu83Gln)	CGB1 (E71Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380607	NM_033377.2(CGB1):c.227A>C (p.Asn76Thr)	CGB1 (N64T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2226109	NM_033377.2(CGB1):c.52G>A (p.Ala18Thr)	CGB1 (A18T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223398	NM_033377.2(CGB1):c.322T>C (p.Cys108Arg)	CGB1 (C96R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	CGB7, CGB8 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	BAX, BCAT2 +58 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +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
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	AP2S1, ARHGAP35 +290 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 32