ClinVar (all) for Orgtrack (Select 506218) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523661	NM_139119.3(YY1AP1):c.583+23T>G	YY1AP1	Single nucleotide variant (intron variant)	Grange syndrome	GPathogenic
Select item 523660	NM_139119.3(YY1AP1):c.412-1G>A	YY1AP1	Single nucleotide variant (splice acceptor variant)	Grange syndrome	GPathogenic
Select item 427927	NM_007217.4(PDCD10):c.96+4389A>G	PDCD10	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 3	Gnot provided
Select item 427926	NM_007217.4(PDCD10):c.-117+1010C>T	PDCD10	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 3	Gnot provided
Select item 427925	NM_031443.4(CCM2):c.30+4465C>T	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	Gnot provided
Select item 427924	NM_007217.4(PDCD10):c.96+4988C>G	PDCD10	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 3	Gnot provided
Select item 427923	NM_007217.4(PDCD10):c.96+6786_96+6787del	PDCD10	Deletion (intron variant)	Cerebral cavernous malformation 3	Gnot provided
Select item 427922	NM_031443.3(CCM2):c.-613A>G	CCM2	Single nucleotide variant	Cerebral cavernous malformation 2	Gnot provided
Select item 427921	NM_007217.4(PDCD10):c.151-2025A>G	PDCD10	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 3	Gnot provided
Select item 427920	NM_007217.4(PDCD10):c.-116-2132T>G	PDCD10	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 3	Gnot provided
Select item 427919	NM_007217.4(PDCD10):c.150+2693T>C	PDCD10	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 3	Gnot provided
Select item 427918	NM_194454.3(KRIT1):c.729+211T>A	KRIT1	Single nucleotide variant (intron variant)	Cerebral cavernous malformation	Gnot provided
Select item 427917	NM_031443.4(CCM2):c.30+2639G>A	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	Gnot provided
Select item 427916	NM_031443.4(CCM2):c.31-14922C>T	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	Gnot provided
Select item 427915	NM_194454.3(KRIT1):c.262+1138G>A	KRIT1	Single nucleotide variant (intron variant)	Cerebral cavernous malformation	Gnot provided
Select item 427914	NM_031443.4(CCM2):c.31-18122A>T	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	Gnot provided
Select item 427913	NM_007217.4(PDCD10):c.96+5295dup	PDCD10	Duplication (intron variant)	Cerebral cavernous malformation 3	Gnot provided
Select item 427912	NM_031443.4(CCM2):c.288+179G>C	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	Gnot provided
Select item 427911	NM_031443.4(CCM2):c.205-11866_205-11863del	CCM2	Deletion (intron variant)	Cerebral cavernous malformation 2	Gnot provided
Select item 427910	NM_194454.3(KRIT1):c.-2-308C>T	KRIT1	Single nucleotide variant (intron variant)	Cerebral cavernous malformation	Gnot provided
Select item 427909	NM_007217.4(PDCD10):c.96+865A>C	PDCD10	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 3	Gnot provided
Select item 427908	NM_031443.4(CCM2):c.204+2040T>C	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	Gnot provided
Select item 427907	NM_194454.3(KRIT1):c.1144dup (p.Arg382fs)	KRIT1 (R382fs +2 more)	Duplication (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 427906	NM_194454.3(KRIT1):c.729+2T>C	KRIT1	Single nucleotide variant (splice donor variant +1 more)	Cerebral cavernous malformation	GPathogenic

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Items: 24