Related gene-specific medical variations for Gene (Select 1056) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2688760	NM_001807.6(CEL):c.2123A>T (p.Asp708Val)	CEL (D708V)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 2665071	NM_001807.6(CEL):c.341-83C>T	CEL	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 2582711	NM_001807.6(CEL):c.277A>C (p.Ser93Arg)	CEL (S93R)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 2439894	NM_001807.6(CEL):c.497del (p.Gly166fs)	CEL (G166fs)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 2438974	NM_001807.6(CEL):c.1875del (p.Val626fs)	CEL (V626fs)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 8	GLikely pathogenic
Select item 1809699	NM_001807.6(CEL):c.718A>G (p.Ser240Gly)	CEL (S240G)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 931259	NM_001807.6(CEL):c.341-2A>G	CEL	Single nucleotide variant (splice acceptor variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 395522	GRCh37/hg19 9q34.2(chr9:135947140-135962157)x3	CEL	Copy number gain	See cases	GBenign/Likely benign
Select item 395348	GRCh37/hg19 9q34.2(chr9:135940490-135962360)x3	CEL	Copy number gain	See cases	GBenign
Select item 395316	GRCh37/hg19 9q34.2(chr9:135940490-135962157)x3	CEL	Copy number gain	See cases	GBenign/Likely benign
Select item 394894	GRCh37/hg19 9q34.2(chr9:135940490-135948528)x3	CEL	Copy number gain	See cases	GBenign
Select item 64670	CEL, 3-REPEAT VNTR	CEL	Microsatellite	Variant of unknown significance	GUncertain significance