ClinVar for MedGen (Select 237128) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1805790	NM_194454.3(KRIT1):c.953_956del (p.Asp318fs)	KRIT1 (D318fs +1 more)	Deletion (frameshift variant +1 more)	Cerebral cavernous malformation 1	GPathogenic
Select item 1805590	NM_194454.3(KRIT1):c.857G>A (p.Trp286Ter)	KRIT1 (W286* +1 more)	Single nucleotide variant (nonsense +1 more)	Cerebral cavernous malformation 1	GPathogenic
Select item 1678641	NM_194454.3(KRIT1):c.1561C>T (p.Gln521Ter)	KRIT1 (Q283* +2 more)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation 1 +1 more	GPathogenic/Likely pathogenic
Select item 1338866	NM_007217.4(PDCD10):c.131dup (p.Arg45fs)	PDCD10 (R45fs)	Duplication (frameshift variant)	Cerebral cavernous malformation 1	GPathogenic
Select item 468207	NM_194454.3(KRIT1):c.1362_1363del (p.Gln455fs)	KRIT1 (Q407fs +2 more)	Microsatellite (frameshift variant)	Cerebral cavernous malformation +1 more	GPathogenic
Select item 5728	NM_194454.3(KRIT1):c.987C>A (p.Cys329Ter)	KRIT1 (C329* +1 more)	Single nucleotide variant (nonsense +1 more)	Cerebral cavernous malformation 1	GPathogenic
Select item 5726	NM_194454.3(KRIT1):c.601C>G (p.Gln201Glu)	KRIT1 (Q201E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 5725	NM_194454.3(KRIT1):c.410A>G (p.Asp137Gly)	KRIT1 (D137G)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation	GLikely pathogenic
Select item 5723	NM_194454.3(KRIT1):c.845+2T>C	KRIT1	Single nucleotide variant (splice donor variant)	Cerebral cavernous malformation +1 more	GPathogenic
Select item 5721	NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter)	KRIT1 (Q407* +2 more)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation +3 more	GPathogenic
Select item 5720	NM_194454.3(KRIT1):c.1867dup (p.Arg623fs)	KRIT1 (R385fs +2 more)	Duplication (frameshift variant)	Cerebral cavernous malformation 1	GPathogenic
Select item 5719	NM_194454.3(KRIT1):c.1940del (p.Lys647fs)	KRIT1 (K409fs +2 more)	Deletion (frameshift variant)	Cerebral cavernous malformation 1	GPathogenic
Select item 5718	NM_194454.3(KRIT1):c.1879C>T (p.Gln627Ter)	KRIT1 (Q389* +2 more)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation	GPathogenic