ClinVar for MedGen (Select 355121) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2973528	NM_007217.4(PDCD10):c.573C>T (p.Phe191=)	PDCD10	Single nucleotide variant (synonymous variant)	Cerebral cavernous malformation 3	GLikely benign
Select item 2915714	NM_007217.4(PDCD10):c.268+5C>G	PDCD10	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 3	GUncertain significance
Select item 2899177	NM_007217.4(PDCD10):c.271T>C (p.Tyr91His)	PDCD10 (Y91H)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation 3	GUncertain significance
Select item 2851724	NM_007217.4(PDCD10):c.229dup (p.Thr77fs)	PDCD10 (T77fs)	Duplication (frameshift variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 2848902	NM_007217.4(PDCD10):c.404C>A (p.Ala135Asp)	PDCD10 (A135D)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation 3	GUncertain significance
Select item 2830579	NM_007217.4(PDCD10):c.243del (p.Arg82fs)	PDCD10 (R82fs)	Deletion (frameshift variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 2828235	NM_007217.4(PDCD10):c.392_395del (p.Ile131fs)	PDCD10 (I131fs)	Deletion (frameshift variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 2757530	NM_007217.4(PDCD10):c.71_85del (p.Ala24_Pro28del)	PDCD10	Deletion (inframe_deletion)	Cerebral cavernous malformation 3	GUncertain significance
Select item 2757526	NM_007217.4(PDCD10):c.430dup (p.Thr144fs)	PDCD10 (T144fs)	Duplication (frameshift variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 2748819	NM_007217.4(PDCD10):c.131T>G (p.Leu44Arg)	PDCD10 (L44R)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation 3 +1 more	GUncertain significance
Select item 2746295	NM_007217.4(PDCD10):c.592dup (p.Ile198fs)	PDCD10 (I198fs)	Duplication (frameshift variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 2734584	NM_007217.4(PDCD10):c.58A>G (p.Met20Val)	PDCD10 (M20V)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation 3	GUncertain significance
Select item 2730787	NM_007217.4(PDCD10):c.396-2A>C	PDCD10	Single nucleotide variant (splice acceptor variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 2729061	NM_007217.4(PDCD10):c.377G>T (p.Arg126Met)	PDCD10 (R126M)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation 3	GUncertain significance
Select item 2720188	NM_007217.4(PDCD10):c.159A>G (p.Lys53=)	PDCD10	Single nucleotide variant (synonymous variant)	Cerebral cavernous malformation 3	GLikely benign
Select item 2692462	NM_007217.4(PDCD10):c.73_76dup (p.Met26fs)	PDCD10 (M26fs)	Duplication (frameshift variant)	Cerebral cavernous malformation 3	GLikely pathogenic
Select item 2441825	NM_007217.4(PDCD10):c.68_69del (p.Tyr23fs)	PDCD10 (Y23fs)	Deletion (frameshift variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 2441672	NM_007217.4(PDCD10):c.542A>G (p.Tyr181Cys)	PDCD10 (Y181C)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation 3	GUncertain significance
Select item 2428525	NM_007217.4(PDCD10):c.208A>T (p.Lys70Ter)	PDCD10 (K70*)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation 3	GPathogenic
Select item 2427341	NC_000003.11:g.(?_167405002)_(167413530_?)del	PDCD10	Deletion	Cerebral cavernous malformation 3	GPathogenic
Select item 2427340	NC_000003.11:g.(?_167413364)_(167413530_?)del	PDCD10	Deletion	Cerebral cavernous malformation 3	GPathogenic
Select item 2201551	NM_007217.4(PDCD10):c.150+11A>G	PDCD10	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 3	GLikely benign
Select item 2152542	NM_007217.4(PDCD10):c.312C>T (p.Asn104=)	PDCD10	Single nucleotide variant (synonymous variant)	Cerebral cavernous malformation 3	GLikely benign
Select item 2144362	NM_007217.4(PDCD10):c.475-8G>A	PDCD10	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 3	GLikely benign
Select item 2124205	NM_007217.4(PDCD10):c.557+1G>T	PDCD10	Single nucleotide variant (splice donor variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 2115676	NM_007217.4(PDCD10):c.97-1G>A	PDCD10	Single nucleotide variant (splice acceptor variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 2111281	NM_007217.4(PDCD10):c.71C>T (p.Ala24Val)	PDCD10 (A24V)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation 3	GUncertain significance
Select item 2103058	NM_007217.4(PDCD10):c.474+4_474+5insACAA	PDCD10	Insertion (intron variant)	Cerebral cavernous malformation 3	GUncertain significance
Select item 2096784	NM_007217.4(PDCD10):c.268+18del	PDCD10	Deletion (intron variant)	Cerebral cavernous malformation 3	GLikely benign
Select item 2092113	NM_007217.4(PDCD10):c.529dup (p.Thr177fs)	PDCD10 (T177fs)	Duplication (frameshift variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 2069365	NM_007217.4(PDCD10):c.143TCA[1] (p.Ile49del)	PDCD10 (I49del)	Microsatellite (inframe_deletion)	Cerebral cavernous malformation 3	GUncertain significance
Select item 2035295	NM_007217.4(PDCD10):c.214G>A (p.Val72Met)	PDCD10 (V72M)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation 3	GUncertain significance
Select item 2035132	NM_007217.4(PDCD10):c.396-19T>C	PDCD10	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 3	GLikely benign
Select item 2023706	NM_007217.4(PDCD10):c.274_275del (p.Met92fs)	PDCD10 (M92fs)	Microsatellite (frameshift variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 2015986	NM_007217.4(PDCD10):c.151-14del	PDCD10	Deletion (intron variant)	Cerebral cavernous malformation 3	GBenign
Select item 1933292	NM_007217.4(PDCD10):c.270G>A (p.Glu90=)	PDCD10	Single nucleotide variant (synonymous variant)	Cerebral cavernous malformation 3	GLikely benign
Select item 1727833	NM_007217.4(PDCD10):c.311A>G (p.Asn104Ser)	PDCD10 (N104S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1606162	NM_007217.4(PDCD10):c.96+17T>C	PDCD10	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 3	GLikely benign
Select item 1602047	NM_007217.4(PDCD10):c.475-11del	PDCD10	Deletion (intron variant)	Cerebral cavernous malformation 3	GBenign
Select item 1536951	NM_007217.4(PDCD10):c.45A>G (p.Thr15=)	PDCD10	Single nucleotide variant (synonymous variant)	Cerebral cavernous malformation 3	GLikely benign
Select item 1460340	NC_000003.11:g.(?_167413364)_(167437945_?)del	PDCD10	Deletion	Cerebral cavernous malformation 3	GPathogenic
Select item 1460202	NC_000003.11:g.(?_167402096)_(167405501_?)del	PDCD10	Deletion	Cerebral cavernous malformation 3	GPathogenic
Select item 1459562	NC_000003.11:g.(?_167437830)_(167437945_?)del	PDCD10	Deletion	Cerebral cavernous malformation 3	GPathogenic
Select item 1458726	NM_007217.4(PDCD10):c.456T>G (p.Tyr152Ter)	PDCD10 (Y152*)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation 3	GPathogenic
Select item 1456505	NM_007217.4(PDCD10):c.62_71del (p.Pro21fs)	PDCD10 (P21fs)	Deletion (frameshift variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 1453765	NM_007217.4(PDCD10):c.334_337del (p.Gln112fs)	PDCD10 (Q112fs)	Deletion (frameshift variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 1453460	NM_007217.4(PDCD10):c.164del (p.Asn55fs)	PDCD10 (N55fs)	Deletion (frameshift variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 1430959	NM_007217.4(PDCD10):c.160_161del (p.Glu54fs)	PDCD10 (E54fs)	Deletion (frameshift variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 1399974	NM_007217.4(PDCD10):c.160G>T (p.Glu54Ter)	PDCD10 (E54*)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation 3	GPathogenic
Select item 1393706	NM_007217.4(PDCD10):c.522_528del (p.Phe174fs)	PDCD10 (F174fs)	Deletion (frameshift variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 1379108	NM_007217.4(PDCD10):c.131_132insTT (p.Leu44_Arg45insTer)	PDCD10	Insertion (frameshift variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 1365315	NM_007217.4(PDCD10):c.442_443del (p.Val148fs)	PDCD10 (V148fs)	Deletion (frameshift variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 1358836	NM_007217.4(PDCD10):c.211del (p.Ser71fs)	PDCD10 (S71fs)	Deletion (frameshift variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 1326560	NM_007217.4(PDCD10):c.557+1G>A	PDCD10	Single nucleotide variant (splice donor variant)	Cerebral cavernous malformation 3 +1 more	GPathogenic
Select item 1148741	NM_007217.4(PDCD10):c.475-4del	PDCD10	Deletion (intron variant)	Cerebral cavernous malformation 3	GLikely benign
Select item 1076520	NM_007217.4(PDCD10):c.211dup (p.Ser71fs)	PDCD10 (S71fs)	Duplication (frameshift variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 1075488	NM_007217.4(PDCD10):c.558-2A>G	PDCD10	Single nucleotide variant (splice acceptor variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 1075385	NC_000003.11:g.(?_167422610)_(167437965_?)del	PDCD10	Deletion	Cerebral cavernous malformation 3	GPathogenic
Select item 1075146	NM_007217.4(PDCD10):c.576_579del (p.Ser193fs)	PDCD10 (S193fs)	Deletion (frameshift variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 1068009	NC_000003.11:g.(?_167422610)_(167422703_?)del	PDCD10	Deletion	Cerebral cavernous malformation 3	GLikely pathogenic
Select item 1065419	NM_007217.4(PDCD10):c.333del (p.Lys111fs)	PDCD10 (K111fs)	Deletion (frameshift variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 982970	NM_007217.4(PDCD10):c.395+46C>T	PDCD10	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 3	GLikely benign
Select item 964266	NM_007217.4(PDCD10):c.565_566del (p.Asn189fs)	PDCD10 (N189fs)	Deletion (frameshift variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 951705	NM_007217.4(PDCD10):c.268+6G>A	PDCD10	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 3	GUncertain significance
Select item 930961	NM_007217.4(PDCD10):c.418G>T (p.Glu140Ter)	PDCD10 (E140*)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation 3	GPathogenic
Select item 901063	NM_007217.4(PDCD10):c.-393G>A	LOC129937857, PDCD10	Single nucleotide variant (5 prime UTR variant +1 more)	Cerebral cavernous malformation 3	GUncertain significance
Select item 899885	NM_007217.4(PDCD10):c.557A>G (p.Lys186Arg)	PDCD10 (K186R)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation 3	GUncertain significance
Select item 899884	NM_007217.4(PDCD10):c.*139A>G	PDCD10	Single nucleotide variant (3 prime UTR variant)	Cerebral cavernous malformation 3	GUncertain significance
Select item 899883	NM_007217.4(PDCD10):c.*199A>C	PDCD10	Single nucleotide variant (3 prime UTR variant)	Cerebral cavernous malformation 3	GUncertain significance
Select item 851434	NM_007217.4(PDCD10):c.178C>T (p.Gln60Ter)	PDCD10 (Q60*)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation 3	GPathogenic
Select item 839267	NM_007217.4(PDCD10):c.-117+6518_20del	PDCD10	Deletion (splice acceptor variant +2 more)	Cerebral cavernous malformation 3	GPathogenic
Select item 833193	NC_000003.12:g.(?_167684288)_(167697146_?)del	PDCD10	Deletion	Cerebral cavernous malformation 3	GPathogenic
Select item 832908	NC_000003.12:g.(?_167684288)_(167687713_?)del	PDCD10	Deletion	Cerebral cavernous malformation 3	GPathogenic
Select item 832106	NC_000003.12:g.(?_167687214)_(167695742_?)dup	PDCD10	Duplication	Cerebral cavernous malformation 3	GLikely pathogenic
Select item 771288	NM_007217.4(PDCD10):c.213C>T (p.Ser71=)	PDCD10	Single nucleotide variant (synonymous variant)	Cerebral cavernous malformation 3	GLikely benign
Select item 702559	NM_007217.4(PDCD10):c.474+9A>G	PDCD10	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 3	GBenign
Select item 649296	NM_007217.4(PDCD10):c.394A>T (p.Lys132Ter)	PDCD10 (K132*)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation 3	GPathogenic
Select item 639871	NC_000003.12:g.(?_167684288)_(167720177_?)del	LOC129937855, PDCD10	Deletion	Cerebral cavernous malformation 3	GPathogenic
Select item 590684	NM_007217.4(PDCD10):c.586C>T (p.Arg196Ter)	PDCD10 (R196*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 590675	NM_007217.4(PDCD10):c.283C>T (p.Arg95Ter)	PDCD10 (R95*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 590673	NM_007217.4(PDCD10):c.269-1G>C	PDCD10	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 580503	NM_007217.4(PDCD10):c.474+4C>A	PDCD10	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 3	GUncertain significance
Select item 574691	NM_007217.4(PDCD10):c.584dup (p.Asn195fs)	PDCD10 (N195fs)	Duplication (frameshift variant)	Cerebral cavernous malformation 3	GPathogenic/Likely pathogenic
Select item 567872	NM_007217.4(PDCD10):c.333dup (p.Gln112fs)	PDCD10 (Q112fs)	Duplication (frameshift variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 562013	NM_007217.4(PDCD10):c.575dup (p.Ser193fs)	PDCD10 (S193fs)	Duplication (frameshift variant)	Cerebral cavernous malformation +1 more	GPathogenic/Likely pathogenic
Select item 536234	NM_007217.4(PDCD10):c.510C>G (p.Tyr170Ter)	PDCD10 (Y170*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 468333	NM_007217.4(PDCD10):c.558-2A>C	PDCD10	Single nucleotide variant (splice acceptor variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 468332	NM_007217.4(PDCD10):c.557+4_557+7del	PDCD10	Microsatellite (splice donor variant)	Cerebral cavernous malformation 3	GPathogenic
Select item 468331	NM_007217.4(PDCD10):c.474+5G>A	PDCD10	Single nucleotide variant (intron variant)	Cerebral arteriovenous malformation +6 more	GPathogenic/Likely pathogenic
Select item 468330	NM_007217.4(PDCD10):c.322C>T (p.Arg108Ter)	PDCD10 (R108*)	Single nucleotide variant (nonsense)	PDCD10-related disorder +2 more	GPathogenic
Select item 468329	NM_007217.4(PDCD10):c.301C>T (p.Gln101Ter)	PDCD10 (Q101*)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation 3	GPathogenic
Select item 468328	NM_007217.4(PDCD10):c.160_163del (p.Glu54fs)	PDCD10 (E54fs)	Deletion (frameshift variant)	Cerebral cavernous malformation 3	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 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 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 427913	NM_007217.4(PDCD10):c.96+5295dup	PDCD10	Duplication (intron variant)	Cerebral cavernous malformation 3	Gnot provided

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