Related gene-specific medical variations for Gene (Select 123624) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338242	NM_152336.4(AGBL1):c.3285A>C (p.Thr1095=)	AGBL1, LOC102724452	Single nucleotide variant (synonymous variant)	Corneal dystrophy, Fuchs endothelial, 8	GBenign
Select item 3338241	NM_001386094.1(AGBL1):c.2423G>C (p.Ser808Thr)	AGBL1 (S808T)	Single nucleotide variant (missense variant)	Corneal dystrophy, Fuchs endothelial, 8	GBenign
Select item 3338240	NM_001386094.1(AGBL1):c.861C>T (p.Pro287=)	AGBL1	Single nucleotide variant (synonymous variant)	Corneal dystrophy, Fuchs endothelial, 8	GBenign
Select item 3242368	NM_001386094.1(AGBL1):c.1641G>T (p.Met547Ile)	AGBL1 (M547I)	Single nucleotide variant (missense variant)	Corneal dystrophy, Fuchs endothelial, 8	GBenign
Select item 3063370	GRCh37/hg19 15q25.3(chr15:87204872-87815657)x3	AGBL1	Copy number gain	not specified	GUncertain significance
Select item 3063368	GRCh37/hg19 15q25.3(chr15:87048759-87110229)x3	AGBL1	Copy number gain	not specified	GUncertain significance
Select item 3063367	GRCh37/hg19 15q25.3(chr15:87022610-87094084)x1	AGBL1	Copy number loss	not specified	GUncertain significance
Select item 2645666	NM_152336.4(AGBL1):c.3287A>G (p.Asn1096Ser)	AGBL1, LOC102724452 (N1096S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1808764	GRCh37/hg19 15q25.3(chr15:87305218-88026584)x3	AGBL1	Copy number gain	not provided	GUncertain significance
Select item 1685507	NM_152336.4(AGBL1):c.3323+1G>A	AGBL1, LOC102724452	Single nucleotide variant (splice donor variant)	Corneal dystrophy, Fuchs endothelial, 8	GUncertain significance
Select item 1340894	GRCh37/hg19 15q25.3(chr15:87202850-87815657)x3	AGBL1	Copy number gain	not provided	GUncertain significance
Select item 980640	GRCh37/hg19 15q25.3(chr15:86705301-87253534)x3	AGBL1	Copy number gain	not provided	GUncertain significance
Select item 980639	GRCh37/hg19 15q25.3(chr15:87449873-87686967)x3	AGBL1	Copy number gain	not provided	GUncertain significance
Select item 980542	GRCh37/hg19 15q25.3(chr15:87202186-87818996)x3	AGBL1	Copy number gain	not provided	GUncertain significance
Select item 688931	GRCh37/hg19 15q25.3(chr15:87022609-87094038)x1	AGBL1	Copy number loss	not provided	GUncertain significance
Select item 686743	GRCh37/hg19 15q25.3(chr15:87202166-87831556)x3	AGBL1	Copy number gain	not provided	GUncertain significance
Select item 685573	GRCh37/hg19 15q25.3(chr15:87202166-87815625)x3	AGBL1	Copy number gain	not provided	GUncertain significance
Select item 684961	GRCh37/hg19 15q25.3(chr15:87022609-87093902)x1	AGBL1	Copy number loss	not provided	GUncertain significance
Select item 564227	GRCh37/hg19 15q25.3(chr15:86402490-86686305)x3	AGBL1	Copy number gain	not provided	GUncertain significance
Select item 394923	GRCh37/hg19 15q25.3(chr15:87465216-87572202)x3	AGBL1	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 20