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CanVaS - A Greek Cancer Patient Genetic Variation Resource

BARD1 (BRCA1 associated RING domain 1)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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Inheritance: Values based on OMIM's and HPO's values for inheritance.

AD	: Autosomal dominant
PI	: Autosomal dominant with paternal imprinting
MI	: Autosomal dominant with maternal imprinting
AR	: Autosomal recessive
DD	: Digenic dominant
DR	: Digenic recessive
IC	: Isolated Cases (Sporadic)
Mi	: Mitochondrial
Mu	: Multifactorial
SMo	: Somatic mosaicism
SMu	: Somatic mutation
OG	: Oligogenic (3 genes)
PG	: Polygenic (>3 genes)
XL	: X-linked
XLD	: X-linked dominant
XLR	: X-linked recessive
YL	: Y-linked

4 entries on 1 page. Showing entries 1 - 4.

Legend

ID	Abbreviation	Name	OMIM ID	Inheritance	Individuals	Phenotypes	Associated with genes	Associated tissues	Disease features
00117	CWS1	Cowden syndrome 1	158350	-	6	6	PTEN	-	-
00120	FMNG	Meningioma, familial, susceptibility to	607174	-	0	0	PTEN, SUFU	-	-
00118	MCAS	Macrocephaly/autism syndrome	605309	-	0	0	PTEN	-	-
00119	VACTERL-H	VATER association with macrocephaly and ventriculomegaly	276950	-	0	0	PTEN	-	-

Legend