CIB3[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 2499635	GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)	AKAP8, AKAP8L +105 more	Copy number loss	Chromosome 19p13.13 deletion syndrome	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 2294715	NM_054113.4(CIB3):c.556C>G (p.Arg186Gly)	CIB3 (R137G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347407	NM_054113.4(CIB3):c.523C>T (p.Arg175Trp)	CIB3 (R175W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473553	NM_054113.4(CIB3):c.488G>A (p.Arg163Gln)	CIB3 (R114Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267326	NM_054113.4(CIB3):c.425C>T (p.Ala142Val)	CIB3 (A93V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618617	NM_054113.4(CIB3):c.410G>A (p.Arg137Gln)	CIB3 (R137Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267327	NM_054113.4(CIB3):c.409C>T (p.Arg137Trp)	CIB3 (R88W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624395	NM_054113.4(CIB3):c.340A>G (p.Ile114Val)	CIB3 (I114V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246369	NM_054113.4(CIB3):c.304G>C (p.Ala102Pro)	CIB3 (A53P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591395	NM_054113.4(CIB3):c.212G>A (p.Arg71His)	CIB3 (R71H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144914	NM_054113.4(CIB3):c.211C>T (p.Arg71Cys)	CIB3 (R22C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526526	NM_054113.4(CIB3):c.205C>T (p.Pro69Ser)	CIB3 (P69S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553574	NM_054113.4(CIB3):c.196A>C (p.Lys66Gln)	CIB3 (K66Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267328	NM_054113.4(CIB3):c.190G>A (p.Glu64Lys)	CIB3 (E64K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267329	NM_054113.4(CIB3):c.164C>T (p.Pro55Leu)	CIB3 (P55L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144913	NM_054113.4(CIB3):c.134A>C (p.Asp45Ala)	CIB3 (D45A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2649507	NM_054113.4(CIB3):c.123C>T (p.Leu41=)	CIB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3144912	NM_054113.4(CIB3):c.119A>G (p.Gln40Arg)	CIB3 (Q40R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293297	NM_054113.4(CIB3):c.112G>A (p.Ala38Thr)	CIB3 (A38T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267330	NM_054113.4(CIB3):c.97C>T (p.Arg33Cys)	CIB3 (R33C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144915	NM_054113.4(CIB3):c.97C>A (p.Arg33Ser)	CIB3 (R33S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206459	NM_054113.4(CIB3):c.95A>G (p.Tyr32Cys)	CIB3 (Y32C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 2684888	GRCh37/hg19 19p13.12-13.11(chr19:16076374-16381932)x3	AP1M1, CIB3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 688090	GRCh37/hg19 19p13.12-13.11(chr19:15623742-16301544)x1	CIB3, CYP4F11 +15 more	Copy number loss	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 442665	GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1	ANO8, ABHD8 +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 442476	GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1	ADGRE2, AKAP8 +45 more	Copy number loss	See cases	GPathogenic
Select item 424641	GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1	HSH2D, KLF2 +46 more	Copy number loss	not provided	GPathogenic

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Items: 38