ClinVar for Gene (Select 5696) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358715	NM_004159.5(PSMB8):c.96C>T (p.Thr32=)	PSMB8, PSMB8-AS1	Single nucleotide variant (synonymous variant)	PSMB8-related disorder	GLikely benign
Select item 3355624	NM_004159.5(PSMB8):c.135+10A>G	PSMB8, PSMB8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	PSMB8-related disorder	GLikely benign
Select item 3310972	NM_148919.4(PSMB8):c.446C>T (p.Ser149Leu)	PSMB8 (S145L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251136	NM_148919.4(PSMB8):c.208G>A (p.Ala70Thr)	PSMB8 (A66T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3246001	NC_000006.11:g.(?_32810848)_(32811339_?)del	PSMB8	Deletion	Proteosome-associated autoinflammatory syndrome	GLikely pathogenic
Select item 3245999	NC_000006.11:g.(?_32796632)_(32808844_?)del	PSMB8, TAP2	Deletion	MHC class I deficiency +1 more	GConflicting classifications of pathogenicity
Select item 3242008	NM_148919.4(PSMB8):c.826C>G (p.Gln276Glu)	PSMB8 (Q272E +1 more)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 3220941	NM_148919.4(PSMB8):c.352T>C (p.Ser118Pro)	PSMB8 (S114P)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 1	GPathogenic
Select item 3220940	NM_148919.4(PSMB8):c.163C>T (p.Gln55Ter)	PSMB8 (Q51*)	Single nucleotide variant (nonsense)	Proteasome-associated autoinflammatory syndrome 1	GPathogenic
Select item 3220392	NM_148919.4(PSMB8):c.358T>C (p.Cys120Arg)	PSMB8 (C120R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3220391	NM_148919.4(PSMB8):c.200T>C (p.Ile67Thr)	PSMB8 (I63T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064774	NM_004159.5(PSMB8):c.107_108del (p.Pro36fs)	PSMB8, PSMB8-AS1 (P36fs)	Deletion (frameshift variant)	Proteasome-associated autoinflammatory syndrome 1	GLikely pathogenic
Select item 3036878	NM_148919.4(PSMB8):c.538-4A>G	PSMB8	Single nucleotide variant (intron variant)	PSMB8-related disorder	GLikely benign
Select item 3023383	NM_148919.4(PSMB8):c.447G>T (p.Ser149=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 3013702	NM_148919.4(PSMB8):c.690G>A (p.Arg230=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 3004878	NM_148919.4(PSMB8):c.304C>A (p.Arg102=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2975822	NM_148919.4(PSMB8):c.147+19C>T	PSMB8	Single nucleotide variant (intron variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2894848	NM_148919.4(PSMB8):c.408-17A>G	PSMB8	Single nucleotide variant (intron variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2890151	NM_148919.4(PSMB8):c.51G>C (p.Ser17=)	PSMB8	Single nucleotide variant (synonymous variant +1 more)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2860423	NM_148919.4(PSMB8):c.50C>A (p.Ser17Ter)	PSMB8 (S17*)	Single nucleotide variant (nonsense +1 more)	Proteosome-associated autoinflammatory syndrome	GPathogenic
Select item 2857238	NM_148919.4(PSMB8):c.685C>T (p.Arg229Cys)	PSMB8 (R225C +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 2848872	NM_148919.4(PSMB8):c.57C>T (p.Leu19=)	PSMB8	Single nucleotide variant (synonymous variant +1 more)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2844110	NM_148919.4(PSMB8):c.383del (p.Glu128fs)	PSMB8 (E128fs +1 more)	Deletion (frameshift variant)	Proteosome-associated autoinflammatory syndrome	GPathogenic
Select item 2818533	NM_148919.4(PSMB8):c.103T>G (p.Phe35Val)	PSMB8 (F35V)	Single nucleotide variant (missense variant +1 more)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 2818532	NM_148919.4(PSMB8):c.108_118del (p.Met37fs)	PSMB8 (M37fs)	Deletion (frameshift variant +1 more)	Proteosome-associated autoinflammatory syndrome	GPathogenic
Select item 2815268	NM_148919.4(PSMB8):c.258A>G (p.Ala86=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2807958	NM_148919.4(PSMB8):c.135C>T (p.Pro45=)	PSMB8	Single nucleotide variant (synonymous variant +1 more)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2784453	NM_148919.4(PSMB8):c.162C>T (p.Phe54=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2771200	NM_148919.4(PSMB8):c.18A>C (p.Val6=)	PSMB8	Single nucleotide variant (synonymous variant +1 more)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2768840	NM_148919.4(PSMB8):c.227_230dup (p.Phe78fs)	PSMB8 (F74fs +1 more)	Duplication (frameshift variant)	Proteosome-associated autoinflammatory syndrome	GPathogenic
Select item 2757558	NM_148919.4(PSMB8):c.218C>T (p.Thr73Ile)	PSMB8 (T69I +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 2753082	NM_148919.4(PSMB8):c.537+18T>C	PSMB8	Single nucleotide variant (intron variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2720780	NM_148919.4(PSMB8):c.228C>T (p.Leu76=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2711704	NM_148919.4(PSMB8):c.829_830del (p.Ter277MetextTer?)	PSMB8	Deletion (frameshift variant +1 more)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 2699550	NM_148919.4(PSMB8):c.287C>A (p.Ser96Tyr)	PSMB8 (S92Y +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 2581896	NM_148919.4(PSMB8):c.272G>C (p.Arg91Pro)	PSMB8 (R87P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2556555	NM_148919.4(PSMB8):c.254T>C (p.Ile85Thr)	PSMB8 (I85T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2419153	NM_148919.4(PSMB8):c.646C>T (p.Arg216Trp)	PSMB8 (R212W +1 more)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2363077	NM_148919.4(PSMB8):c.40C>G (p.Arg14Gly)	PSMB8 (R14G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267957	NM_148919.4(PSMB8):c.547C>T (p.Leu183Phe)	PSMB8 (L179F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238814	NM_148919.4(PSMB8):c.83C>G (p.Ser28Trp)	PSMB8 (S28W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2165819	NM_148919.4(PSMB8):c.6G>C (p.Ala2=)	PSMB8	Single nucleotide variant (synonymous variant +1 more)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2157583	NM_148919.4(PSMB8):c.743-5C>T	PSMB8	Single nucleotide variant (intron variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 2148507	NM_148919.4(PSMB8):c.284G>T (p.Gly95Val)	PSMB8 (G95V +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 2147267	NM_148919.4(PSMB8):c.212A>G (p.His71Arg)	PSMB8 (H67R +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 2134785	NM_148919.4(PSMB8):c.467C>T (p.Ser156Phe)	PSMB8 (S152F +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 2131392	NM_148919.4(PSMB8):c.228C>G (p.Leu76=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2122173	NM_148919.4(PSMB8):c.606T>C (p.Ser202=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2120741	NM_148919.4(PSMB8):c.778_784dup (p.Thr262fs)	PSMB8 (T258fs +1 more)	Microsatellite (frameshift variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 2109309	NM_148919.4(PSMB8):c.274G>C (p.Ala92Pro)	PSMB8 (A92P +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 2102382	NM_148919.4(PSMB8):c.148-13T>C	PSMB8	Single nucleotide variant (intron variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2097140	NM_148919.4(PSMB8):c.139G>A (p.Gly47Arg)	PSMB8 (G47R)	Single nucleotide variant (missense variant +1 more)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 2091862	NM_148919.4(PSMB8):c.408G>A (p.Arg136=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 2089839	NM_148919.4(PSMB8):c.504T>C (p.Ser168=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2087441	NM_148919.4(PSMB8):c.296-15T>G	PSMB8	Single nucleotide variant (intron variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2080148	NM_148919.4(PSMB8):c.647G>A (p.Arg216Gln)	PSMB8 (R216Q +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 2070971	NM_148919.4(PSMB8):c.447G>A (p.Ser149=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2062078	NM_148919.4(PSMB8):c.694A>C (p.Ile232Leu)	PSMB8 (I228L +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 2053559	NM_148919.4(PSMB8):c.735T>C (p.Val245=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2034098	NM_148919.4(PSMB8):c.742+15C>T	PSMB8	Single nucleotide variant (intron variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 2027149	NM_148919.4(PSMB8):c.69_147+42del	PSMB8	Deletion (intron variant +1 more)	Proteosome-associated autoinflammatory syndrome	GLikely pathogenic
Select item 2016806	NM_148919.4(PSMB8):c.759A>C (p.Glu253Asp)	PSMB8 (E253D +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 2014006	NM_148919.4(PSMB8):c.134C>G (p.Pro45Arg)	PSMB8 (P45R)	Single nucleotide variant (missense variant +1 more)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 1994621	NM_148919.4(PSMB8):c.826_*1del (p.Gln276fs)	PSMB8 (Q276fs +1 more)	Deletion (frameshift variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 1987086	NM_148919.4(PSMB8):c.312C>T (p.Asn104=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1983210	NM_148919.4(PSMB8):c.812A>G (p.Tyr271Cys)	PSMB8 (Y267C +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 1972517	NM_148919.4(PSMB8):c.609G>A (p.Gly203=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1967939	NM_148919.4(PSMB8):c.97T>C (p.Tyr33His)	PSMB8 (Y33H)	Single nucleotide variant (missense variant +1 more)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 1961382	NM_148919.4(PSMB8):c.567T>C (p.His189=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1960891	NM_148919.4(PSMB8):c.27C>A (p.Ala9=)	PSMB8	Single nucleotide variant (synonymous variant +1 more)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1927458	NM_148919.4(PSMB8):c.60G>T (p.Pro20=)	PSMB8	Single nucleotide variant (synonymous variant +1 more)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1905372	NM_148919.4(PSMB8):c.342T>C (p.Leu114=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1714834	NM_148919.4(PSMB8):c.807C>A (p.His269Gln)	PSMB8 (H265Q +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance
Select item 1694142	NM_148919.4(PSMB8):c.548T>C (p.Leu183Pro)	PSMB8 (L179P +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694141	NM_148919.4(PSMB8):c.434G>A (p.Arg145His)	PSMB8 (R141H +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694140	NM_148919.4(PSMB8):c.408G>C (p.Arg136Ser)	PSMB8 (R132S +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694139	NM_148919.4(PSMB8):c.407+7G>A	PSMB8	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1694138	NM_148919.4(PSMB8):c.392T>C (p.Leu131Pro)	PSMB8 (L127P +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694137	NM_148919.4(PSMB8):c.240C>T (p.Phe80=)	PSMB8	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1694136	NM_148919.4(PSMB8):c.112C>A (p.Arg38=)	PSMB8	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 1693911	NM_148919.4(PSMB8):c.271C>T (p.Arg91Trp)	PSMB8 (R87W +1 more)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 1 +1 more	GUncertain significance
Select item 1693910	NM_148919.4(PSMB8):c.512G>A (p.Ser171Asn)	PSMB8 (S167N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691062	NM_148919.4(PSMB8):c.31dup (p.Arg11fs)	PSMB8 (R11fs)	Duplication (frameshift variant +1 more)	See cases +1 more	GConflicting classifications of pathogenicity
Select item 1666619	NM_148919.4(PSMB8):c.148-17C>G	PSMB8	Single nucleotide variant (intron variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1664776	NM_148919.4(PSMB8):c.147+15G>A	PSMB8	Single nucleotide variant (intron variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1657534	NM_148919.4(PSMB8):c.537+17C>A	PSMB8	Single nucleotide variant (intron variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1655586	NM_148919.4(PSMB8):c.296-15T>C	PSMB8	Single nucleotide variant (intron variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1648576	NM_148919.4(PSMB8):c.393G>A (p.Leu131=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1646601	NM_148919.4(PSMB8):c.309G>T (p.Val103=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1627479	NM_148919.4(PSMB8):c.561T>C (p.Asp187=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1626622	NM_148919.4(PSMB8):c.189G>A (p.Arg63=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1607889	NM_148919.4(PSMB8):c.295+12C>T	PSMB8	Single nucleotide variant (intron variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1591229	NM_148919.4(PSMB8):c.762T>C (p.Asp254=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1566043	NM_148919.4(PSMB8):c.576G>A (p.Arg192=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1562582	NM_148919.4(PSMB8):c.296-4C>T	PSMB8	Single nucleotide variant (intron variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1547111	NM_148919.4(PSMB8):c.648G>C (p.Arg216=)	PSMB8	Single nucleotide variant (synonymous variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1528194	NM_148919.4(PSMB8):c.538-8T>C	PSMB8	Single nucleotide variant (intron variant)	Proteosome-associated autoinflammatory syndrome	GLikely benign
Select item 1499765	NM_148919.4(PSMB8):c.191A>T (p.Asn64Ile)	PSMB8 (N60I +1 more)	Single nucleotide variant (missense variant)	Proteosome-associated autoinflammatory syndrome	GUncertain significance

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