ClinVar for Gene (Select 11235) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058354	NM_007217.4(PDCD10):c.150G>A (p.Lys50=)	PDCD10	Single nucleotide variant (synonymous variant)	PDCD10-related condition	GUncertain significance
Select item 3025829	NM_007217.4(PDCD10):c.254C>T (p.Ala85Val)	PDCD10 (A85V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024629	GRCh37/hg19 3q26.1-26.2(chr3:164432414-167873834)x1	PDCD10, SERPINI1 +7 more	Copy number loss	not provided	GPathogenic
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	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 2685096	GRCh37/hg19 3q26.1(chr3:167343287-167470158)x1	PDCD10, SERPINI1 +1 more	Copy number loss	not provided	GPathogenic
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2628404	NM_007217.4(PDCD10):c.462C>A (p.Tyr154Ter)	PDCD10 (Y154*)	Single nucleotide variant (nonsense)	PDCD10-related condition	GLikely pathogenic
Select item 2586963	NM_007217.4(PDCD10):c.193A>C (p.Lys65Gln)	PDCD10 (K65Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579872	NM_007217.4(PDCD10):c.396-2A>G	PDCD10	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2572727	NM_007217.4(PDCD10):c.302A>G (p.Gln101Arg)	PDCD10 (Q101R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2539866	NM_007217.4(PDCD10):c.571T>A (p.Phe191Ile)	PDCD10 (F191I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504809	NM_007217.4(PDCD10):c.598C>T (p.Gln200Ter)	PDCD10 (Q200*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2501949	NM_007217.4(PDCD10):c.268+3A>G	PDCD10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2465685	NM_007217.4(PDCD10):c.414A>G (p.Ile138Met)	PDCD10 (I138M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2295632	NM_007217.4(PDCD10):c.68A>G (p.Tyr23Cys)	PDCD10 (Y23C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260129	NM_007217.4(PDCD10):c.398A>C (p.Asp133Ala)	PDCD10 (D133A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1809189	GRCh37/hg19 3q26.1(chr3:167237803-167447300)x3	PDCD10, WDR49	Copy number gain	not provided	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1801208	NM_007217.4(PDCD10):c.392T>G (p.Ile131Ser)	PDCD10 (I131S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1789077	NM_007217.4(PDCD10):c.228C>T (p.Phe76=)	PDCD10	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1783379	NM_007217.4(PDCD10):c.195A>G (p.Lys65=)	PDCD10	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1768874	NM_007217.4(PDCD10):c.99A>G (p.Leu33=)	PDCD10	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1752797	NM_007217.4(PDCD10):c.630T>C (p.Thr210=)	PDCD10	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1744373	NM_007217.4(PDCD10):c.495A>G (p.Lys165=)	PDCD10	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1735260	NM_007217.4(PDCD10):c.381T>C (p.Phe127=)	PDCD10	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1727833	NM_007217.4(PDCD10):c.311A>G (p.Asn104Ser)	PDCD10 (N104S)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation 3 +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 1527053	GRCh37/hg19 3q26.1-26.2(chr3:163595552-168022596)	BCHE, GOLIM4 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
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 1436757	NC_000003.11:g.(?_167402096)_(167543111_?)dup	PDCD10, SERPINI1	Duplication	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
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 1340184	GRCh37/hg19 3q26.1(chr3:167247577-167470158)x3	PDCD10, SERPINI1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1338866	NM_007217.4(PDCD10):c.131dup (p.Arg45fs)	PDCD10 (R45fs)	Duplication (frameshift variant)	Cerebral cavernous malformation 1	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 1313458	NM_007217.4(PDCD10):c.474G>T (p.Arg158Ser)	PDCD10 (R158S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1284723	NM_007217.4(PDCD10):c.104G>A (p.Arg35Gln)	PDCD10 (R35Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1280821	NM_007217.4(PDCD10):c.395+203_395+205del	PDCD10	Microsatellite (intron variant)	not provided	GBenign
Select item 1266048	NM_007217.4(PDCD10):c.269-277del	PDCD10	Deletion (intron variant)	not provided	GBenign
Select item 1244053	NM_007217.4(PDCD10):c.558-97T>C	PDCD10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238875	NC_000003.12:g.167734916A>C	LOC129937857, PDCD10	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1237948	NM_007217.4(PDCD10):c.395+216A>G	PDCD10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237061	NM_007217.4(PDCD10):c.150+93G>A	PDCD10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234751	NM_007217.4(PDCD10):c.269-260del	PDCD10	Deletion (intron variant)	not provided	GBenign
Select item 1228947	NM_007217.4(PDCD10):c.150+273dup	PDCD10	Duplication (intron variant)	not provided	GBenign
Select item 1227612	NM_007217.4(PDCD10):c.558-267T>G	PDCD10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183837	NM_007217.4(PDCD10):c.558-59A>G	PDCD10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179733	NM_007217.4(PDCD10):c.150+285del	PDCD10	Deletion (intron variant)	not provided	GBenign
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

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