Related gene-specific medical variations for Gene (Select 10518) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267325	NM_006383.4(CIB2):c.20T>C (p.Ile7Thr)	CIB2, LOC130057683 (I7T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2539417	NM_006383.4(CIB2):c.23T>G (p.Phe8Cys)	CIB2, LOC130057683 (F8C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2286978	NM_006383.4(CIB2):c.44A>G (p.Asn15Ser)	CIB2, LOC130057683 (N15S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2197718	NM_006383.4(CIB2):c.39A>G (p.Leu13=)	CIB2, LOC130057683	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2115742	NM_006383.4(CIB2):c.51+6C>G	CIB2, LOC130057683	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1941310	NM_006383.4(CIB2):c.51+13C>T	CIB2, LOC130057683	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933355	NM_006383.4(CIB2):c.28G>A (p.Glu10Lys)	CIB2, LOC130057683 (E10K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1801505	NM_006383.4(CIB2):c.9C>G (p.Asn3Lys)	CIB2, LOC130057683 (N3K)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive nonsyndromic hearing loss 48	GUncertain significance
Select item 1709624	NM_006383.4(CIB2):c.47A>G (p.Tyr16Cys)	CIB2, LOC130057683 (Y16C)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive nonsyndromic hearing loss 48	GUncertain significance
Select item 1420092	NM_006383.4(CIB2):c.40_47del (p.Asp14fs)	CIB2, LOC130057683 (D14fs)	Deletion (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 1376784	NM_006383.4(CIB2):c.4G>A (p.Gly2Arg)	CIB2, LOC130057683 (G2R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1239040	NM_006383.4(CIB2):c.-109C>T	CIB2, LOC130057683	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1123780	NM_006383.4(CIB2):c.24C>T (p.Phe8=)	CIB2, LOC130057683	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 950983	NM_006383.4(CIB2):c.48C>G (p.Tyr16Ter)	LOC130057683, CIB2 (Y16*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 710301	NM_006383.4(CIB2):c.27C>G (p.Thr9=)	CIB2, LOC130057683	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 678686	NM_006383.4(CIB2):c.-39T>A	CIB2, LOC130057683	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 512694	NM_006383.4(CIB2):c.-22G>A	CIB2, LOC130057683	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 508091	NM_006383.4(CIB2):c.-39T>G	CIB2, LOC130057683	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign