ClinVar for Gene (Select 57654) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352890	NM_020894.4(UVSSA):c.741C>T (p.Asp247=)	UVSSA	Single nucleotide variant (synonymous variant)	UVSSA-related disorder	GLikely benign
Select item 3331815	NM_020894.4(UVSSA):c.1987G>A (p.Ala663Thr)	UVSSA (A663T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331814	NM_020894.4(UVSSA):c.246C>A (p.Asn82Lys)	UVSSA (N82K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331813	NM_020894.4(UVSSA):c.745G>A (p.Glu249Lys)	UVSSA (E249K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331812	NM_020894.4(UVSSA):c.1942G>A (p.Gly648Ser)	UVSSA (G648S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331811	NM_020894.4(UVSSA):c.1237G>A (p.Glu413Lys)	UVSSA (E413K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331810	NM_020894.4(UVSSA):c.614C>G (p.Pro205Arg)	UVSSA (P205R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331809	NM_020894.4(UVSSA):c.1337C>T (p.Thr446Met)	UVSSA (T446M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331808	NM_020894.4(UVSSA):c.1994C>T (p.Ala665Val)	UVSSA (A665V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331807	NM_020894.4(UVSSA):c.1738C>A (p.Gln580Lys)	UVSSA (Q580K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269532	NC_000004.12:g.1394701C>T	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269530	NC_000004.12:g.1395524G>A	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269529	NC_000004.12:g.1395605A>T	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269528	NC_000004.12:g.1395275G>A	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269527	NC_000004.12:g.1395389C>T	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269526	NC_000004.12:g.1395769G>A	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269525	NC_000004.12:g.1395011C>T	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269524	NC_000004.12:g.1395659C>T	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269523	NC_000004.12:g.1394525C>T	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269522	NC_000004.12:g.1395392G>A	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269521	NC_000004.12:g.1394794C>T	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269520	NC_000004.12:g.1395431G>A	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269519	NC_000004.12:g.1395260G>A	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269518	NC_000004.12:g.1395488A>G	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3250504	NM_175918.3(CRIPAK):c.1329C>T (p.Leu443=)	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3188106	NM_020894.4(UVSSA):c.741C>G (p.Asp247Glu)	UVSSA (D247E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188105	NM_020894.4(UVSSA):c.736C>T (p.Arg246Trp)	UVSSA (R246W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3188104	NM_020894.4(UVSSA):c.682C>T (p.Arg228Cys)	UVSSA (R228C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188103	NM_020894.4(UVSSA):c.629C>T (p.Pro210Leu)	UVSSA (P210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188102	NM_020894.4(UVSSA):c.605T>C (p.Leu202Pro)	UVSSA (L202P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188101	NM_020894.4(UVSSA):c.572C>G (p.Ser191Cys)	UVSSA (S191C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3188100	NM_020894.4(UVSSA):c.572C>A (p.Ser191Tyr)	UVSSA (S191Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188099	NM_020894.4(UVSSA):c.455G>A (p.Arg152Gln)	UVSSA (R152Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188098	NM_020894.4(UVSSA):c.349G>A (p.Val117Met)	UVSSA (V117M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188097	NM_020894.4(UVSSA):c.343C>T (p.Arg115Trp)	UVSSA (R115W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188096	NM_020894.4(UVSSA):c.314C>T (p.Ala105Val)	UVSSA (A105V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3188095	NM_020894.4(UVSSA):c.2075T>C (p.Met692Thr)	UVSSA (M692T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188094	NM_020894.4(UVSSA):c.1819G>A (p.Ala607Thr)	UVSSA (A607T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188093	NM_020894.4(UVSSA):c.1574A>C (p.Asp525Ala)	UVSSA (D525A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188092	NM_020894.4(UVSSA):c.1555G>A (p.Gly519Arg)	UVSSA (G519R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188091	NM_020894.4(UVSSA):c.1403G>A (p.Arg468Gln)	UVSSA (R468Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3188090	NM_020894.4(UVSSA):c.1348A>G (p.Met450Val)	UVSSA (M450V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188089	NM_020894.4(UVSSA):c.1158G>C (p.Glu386Asp)	UVSSA (E386D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188088	NM_020894.4(UVSSA):c.1010G>A (p.Arg337Gln)	UVSSA (R337Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077477	NC_000004.12:g.1395470C>T	CRIPAK, LOC126806945 +1 more (P320L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077475	NC_000004.12:g.1394600T>C	CRIPAK, LOC126806945 +1 more (V30A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077474	NC_000004.12:g.1395309G>A	CRIPAK, LOC126806945 +1 more (M266I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077473	NC_000004.12:g.1395203C>T	CRIPAK, LOC126806945 +1 more (A231V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077472	NC_000004.12:g.1395124T>C	CRIPAK, LOC126806945 +1 more (C205R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077471	NC_000004.12:g.1394561C>T	CRIPAK, LOC126806945 +1 more (T17M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077470	NC_000004.12:g.1394953T>C	CRIPAK, LOC126806945 +1 more (C148R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077469	NC_000004.12:g.1394944G>C	CRIPAK, LOC126806945 +1 more (V145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077468	NC_000004.12:g.1394929A>G	CRIPAK, LOC126806945 +1 more (T140A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077467	NC_000004.12:g.1394918C>T	CRIPAK, LOC126806945 +1 more (P136L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077465	NC_000004.12:g.1394873C>T	CRIPAK, LOC126806945 +1 more (P121L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077464	NC_000004.12:g.1394776T>G	CRIPAK, LOC126806945 +1 more (C89G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077463	NC_000004.12:g.1394704C>T	CRIPAK, LOC126806945 +1 more (P65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077462	NC_000004.12:g.1394671C>T	CRIPAK, LOC126806945 +1 more (R54C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077461	NC_000004.12:g.1395745C>G	CRIPAK, LOC126806945 +1 more (P412A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077460	NC_000004.12:g.1394627G>C	CRIPAK, LOC126806945 +1 more (R39P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077459	NC_000004.12:g.1395535G>A	CRIPAK, LOC126806945 +1 more (A342T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077458	NC_000004.12:g.1395512A>C	CRIPAK, LOC126806945 +1 more (H334P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	GPathogenic
Select item 3062796	GRCh37/hg19 4p16.3(chr4:769757-2009467)x3	CPLX1, CRIPAK +20 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3059863	NM_020894.4(UVSSA):c.1172G>A (p.Arg391His)	UVSSA (R391H)	Single nucleotide variant (missense variant)	UVSSA-related disorder	GBenign
Select item 3058857	NM_020894.4(UVSSA):c.1497G>A (p.Ala499=)	UVSSA	Single nucleotide variant (synonymous variant)	UVSSA-related disorder	GBenign
Select item 3055793	NM_020894.4(UVSSA):c.636G>A (p.Pro212=)	UVSSA	Single nucleotide variant (synonymous variant)	UVSSA-related disorder	GBenign
Select item 3053320	NM_020894.4(UVSSA):c.1394G>A (p.Arg465Gln)	UVSSA (R465Q)	Single nucleotide variant (missense variant)	UVSSA-related disorder	GLikely benign
Select item 3053228	NM_020894.4(UVSSA):c.1753-10C>T	UVSSA	Single nucleotide variant (intron variant)	UVSSA-related disorder	GLikely benign
Select item 3052599	NM_020894.4(UVSSA):c.551-6C>T	UVSSA	Single nucleotide variant (intron variant)	UVSSA-related disorder	GLikely benign
Select item 3044630	NM_020894.4(UVSSA):c.123C>T (p.Arg41=)	UVSSA	Single nucleotide variant (synonymous variant)	UVSSA-related disorder	GBenign
Select item 3042840	NM_020894.4(UVSSA):c.303C>T (p.Pro101=)	UVSSA	Single nucleotide variant (synonymous variant)	UVSSA-related disorder	GLikely benign
Select item 3041833	NM_020894.4(UVSSA):c.1213G>A (p.Asp405Asn)	UVSSA (D405N)	Single nucleotide variant (missense variant)	UVSSA-related disorder	GLikely benign
Select item 3040915	NM_020894.4(UVSSA):c.900G>A (p.Ser300=)	UVSSA	Single nucleotide variant (synonymous variant)	UVSSA-related disorder	GLikely benign
Select item 3040176	NM_020894.4(UVSSA):c.1130A>G (p.Lys377Arg)	UVSSA (K377R)	Single nucleotide variant (missense variant)	UVSSA-related disorder	GLikely benign
Select item 3034387	NM_020894.4(UVSSA):c.1048-10C>T	UVSSA	Single nucleotide variant (intron variant)	UVSSA-related disorder	GLikely benign
Select item 3025467	NM_175918.3(CRIPAK):c.789C>T (p.His263=)	CRIPAK, UVSSA +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024900	NM_175918.3(CRIPAK):c.519A>T (p.Pro173=)	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024899	NM_175918.3(CRIPAK):c.518C>A (p.Pro173Gln)	CRIPAK, LOC126806945 +1 more (P173Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MSANTD1, MSX1 +117 more	Copy number loss	not provided	GPathogenic
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2685098	GRCh37/hg19 4p16.3(chr4:68346-2681414)x1	NELFA, NICOL1 +39 more	Copy number loss	not provided	GPathogenic
Select item 2654576	NM_175918.3(CRIPAK):c.1041C>G (p.Pro347=)	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654575	NM_175918.3(CRIPAK):c.900G>A (p.Pro300=)	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654574	NM_175918.3(CRIPAK):c.826T>C (p.Cys276Arg)	CRIPAK, LOC126806945 +1 more (C276R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654573	NM_175918.3(CRIPAK):c.642C>G (p.Pro214=)	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654572	NM_175918.3(CRIPAK):c.642C>A (p.Pro214=)	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654571	NM_175918.3(CRIPAK):c.624T>G (p.Pro208=)	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654570	NM_175918.3(CRIPAK):c.552G>A (p.Thr184=)	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654569	NM_175918.3(CRIPAK):c.549_579del31 (p.Thr184Metfs)	CRIPAK, LOC126806945 +1 more	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2654568	NM_175918.3(CRIPAK):c.522T>C (p.Cys174=)	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654567	NM_175918.3(CRIPAK):c.518_672del155 (p.Pro173Argfs)	CRIPAK, LOC126806945 +1 more	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2654566	NM_175918.3(CRIPAK):c.439G>A (p.Ala147Thr)	CRIPAK, LOC126806945 +1 more (A147T)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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