"CIB1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1167687	NM_006384.4(CIB1):c.466-5C>G	CIB1	Single nucleotide variant (intron variant)	CIB1-related disorder +2 more	GBenign
Select item 710076	NM_006384.4(CIB1):c.444G>A (p.Glu148=)	CIB1	Single nucleotide variant (synonymous variant +1 more)	CIB1-related disorder +1 more	GBenign
Select item 710077	NM_006384.4(CIB1):c.435T>C (p.Ser145=)	CIB1	Single nucleotide variant (synonymous variant +1 more)	CIB1-related disorder +1 more	GBenign
Select item 3032502	NM_006384.4(CIB1):c.346+8C>A	CIB1	Single nucleotide variant (intron variant)	CIB1-related disorder	GLikely benign
Select item 1166891	NM_006384.4(CIB1):c.244G>A (p.Ala82Thr)	CIB1 (A122T +1 more)	Single nucleotide variant (missense variant +1 more)	CIB1-related disorder +1 more	GBenign
Select item 1157486	NM_006384.4(CIB1):c.195+8C>T	CIB1	Single nucleotide variant (intron variant)	CIB1-related disorder +1 more	GLikely benign
Select item 1164677	NM_006384.4(CIB1):c.119A>C (p.Gln40Pro)	CIB1 (Q40P +1 more)	Single nucleotide variant (missense variant +1 more)	CIB1-related disorder +1 more	GBenign
Select item 3043144	NM_006384.4(CIB1):c.87-36C>T	CIB1	Single nucleotide variant (synonymous variant +1 more)	CIB1-related disorder	GLikely benign
Select item 2635510	NM_006384.4(CIB1):c.87-37T>G	CIB1 (I57S)	Single nucleotide variant (missense variant +1 more)	CIB1-related disorder	GUncertain significance
Select item 768726	NM_006384.4(CIB1):c.87-84C>T	CIB1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign