Related gene-specific medical variations for Gene (Select 1361) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3350696	NM_001872.5(CPB2):c.609del (p.Gly203_Ile204insTer)	CPB2, CPB2-AS1	Deletion (frameshift variant +1 more)	CPB2-related disorder	GUncertain significance
Select item 3269146	NM_001872.5(CPB2):c.1221A>T (p.Glu407Asp)	CPB2, CPB2-AS1 (E370D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3269144	NM_001872.5(CPB2):c.314A>G (p.Gln105Arg)	CPB2, CPB2-AS1 (Q105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076597	NM_001872.5(CPB2):c.386T>C (p.Ile129Thr)	CPB2, CPB2-AS1 (I129T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076596	NM_001872.5(CPB2):c.349G>T (p.Ala117Ser)	CPB2, CPB2-AS1 (A117S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3076595	NM_001872.5(CPB2):c.268C>T (p.Pro90Ser)	CPB2, CPB2-AS1 (P90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076594	NM_001872.5(CPB2):c.256G>A (p.Val86Met)	CPB2, CPB2-AS1 (V86M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060878	NM_001872.5(CPB2):c.291T>C (p.Asp97=)	CPB2, CPB2-AS1	Single nucleotide variant (synonymous variant)	CPB2-related disorder	GBenign
Select item 3060410	NM_001872.5(CPB2):c.663A>G (p.Pro221=)	CPB2, CPB2-AS1	Single nucleotide variant (synonymous variant +1 more)	CPB2-related disorder	GBenign
Select item 3059667	NM_001872.5(CPB2):c.505G>A (p.Ala169Thr)	CPB2, CPB2-AS1 (A169T)	Single nucleotide variant (missense variant)	CPB2-related disorder	GBenign
Select item 3059439	NM_001872.5(CPB2):c.753C>T (p.Ile251=)	CPB2, CPB2-AS1	Single nucleotide variant (synonymous variant)	CPB2-related disorder	GBenign
Select item 3059117	NM_001872.5(CPB2):c.678T>C (p.Asp226=)	CPB2, CPB2-AS1	Single nucleotide variant (synonymous variant +1 more)	CPB2-related disorder	GBenign
Select item 3058934	NM_001872.5(CPB2):c.1040T>C (p.Ile347Thr)	CPB2, CPB2-AS1 (I310T +1 more)	Single nucleotide variant (missense variant)	CPB2-related disorder	GBenign
Select item 3039073	NM_001872.5(CPB2):c.552A>G (p.Glu184=)	CPB2, CPB2-AS1	Single nucleotide variant (synonymous variant)	CPB2-related disorder	GLikely benign
Select item 3035536	NM_001872.5(CPB2):c.1215T>C (p.Cys405=)	CPB2, CPB2-AS1	Single nucleotide variant (synonymous variant)	CPB2-related disorder	GLikely benign
Select item 2611729	NM_001872.5(CPB2):c.353C>T (p.Ser118Leu)	CPB2, CPB2-AS1 (S118L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599577	NM_001872.5(CPB2):c.197A>C (p.Lys66Thr)	CPB2, CPB2-AS1 (K66T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597517	NM_001872.5(CPB2):c.1006G>T (p.Val336Leu)	CPB2, CPB2-AS1 (V336L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591548	NM_001872.5(CPB2):c.737C>T (p.Ala246Val)	CPB2, CPB2-AS1 (A246V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476906	NM_001872.5(CPB2):c.1081A>G (p.Thr361Ala)	CPB2, CPB2-AS1 (T361A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463338	NM_001872.5(CPB2):c.1184T>C (p.Leu395Ser)	CPB2, CPB2-AS1 (L395S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333802	NM_001872.5(CPB2):c.1018G>A (p.Ala340Thr)	CPB2, CPB2-AS1 (A303T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 762353	NM_001872.5(CPB2):c.75-4C>G	CPB2, CPB2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 713135	NM_001872.5(CPB2):c.735T>C (p.Tyr245=)	CPB2, CPB2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710029	NM_001872.5(CPB2):c.426T>C (p.Asp142=)	CPB2, CPB2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign

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Links from Gene

Items: 25