ClinVar for Gene (Select 10806) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3582893	NM_006642.5(SDCCAG8):c.*14G>C	AKT3, SDCCAG8	Single nucleotide variant (3 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582867	NM_006642.5(SDCCAG8):c.2081T>C (p.Leu694Pro)	AKT3, SDCCAG8 (L393P +3 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582858	NM_006642.5(SDCCAG8):c.2072G>A (p.Arg691Lys)	SDCCAG8, AKT3 (R593K +3 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582855	NM_006642.5(SDCCAG8):c.1986-6C>G	AKT3, SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582830	NM_006642.5(SDCCAG8):c.1946G>A (p.Cys649Tyr)	SDCCAG8 (C649Y +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582829	NM_006642.5(SDCCAG8):c.1944del (p.Gln648fs)	SDCCAG8 (Q680fs +3 more)	Deletion (frameshift variant)	Senior-Loken syndrome 7 +1 more	GLikely pathogenic
Select item 3582823	NM_006642.5(SDCCAG8):c.1930G>C (p.Glu644Gln)	SDCCAG8 (E676Q +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582815	NM_006642.5(SDCCAG8):c.1910del (p.Lys637fs)	SDCCAG8 (K637fs +3 more)	Deletion (frameshift variant)	Senior-Loken syndrome 7 +1 more	GLikely pathogenic
Select item 3582811	NM_006642.5(SDCCAG8):c.1844A>G (p.Gln615Arg)	SDCCAG8 (Q314R +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582809	NM_006642.5(SDCCAG8):c.1827del (p.Lys609fs)	SDCCAG8 (K641fs +3 more)	Deletion (frameshift variant)	Senior-Loken syndrome 7 +1 more	GLikely pathogenic
Select item 3582808	NM_006642.5(SDCCAG8):c.1807T>C (p.Cys603Arg)	SDCCAG8 (C302R +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582805	NM_006642.5(SDCCAG8):c.1762T>G (p.Leu588Val)	SDCCAG8 (L490V +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582802	NM_006642.5(SDCCAG8):c.1705C>T (p.Gln569Ter)	SDCCAG8 (Q569* +3 more)	Single nucleotide variant (nonsense)	Senior-Loken syndrome 7 +1 more	GLikely pathogenic
Select item 3582800	NM_006642.5(SDCCAG8):c.1618C>T (p.Gln540Ter)	SDCCAG8 (Q572* +3 more)	Single nucleotide variant (nonsense)	Senior-Loken syndrome 7 +1 more	GLikely pathogenic
Select item 3582797	NM_006642.5(SDCCAG8):c.1616+20T>G	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582789	NM_006642.5(SDCCAG8):c.1606C>T (p.His536Tyr)	SDCCAG8 (H536Y +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582765	NM_006642.5(SDCCAG8):c.1562G>A (p.Cys521Tyr)	SDCCAG8 (C220Y +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582758	NM_006642.5(SDCCAG8):c.1559A>G (p.Glu520Gly)	SDCCAG8 (E422G +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582752	NM_006642.5(SDCCAG8):c.1556_1557del (p.Glu519fs)	SDCCAG8 (E421fs +3 more)	Microsatellite (frameshift variant)	Senior-Loken syndrome 7 +1 more	GLikely pathogenic
Select item 3582728	NM_006642.5(SDCCAG8):c.1468G>A (p.Asp490Asn)	SDCCAG8 (D392N +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582721	NM_006642.5(SDCCAG8):c.1415A>T (p.Glu472Val)	SDCCAG8 (E504V +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582718	NM_006642.5(SDCCAG8):c.1376A>C (p.Tyr459Ser)	SDCCAG8 (Y459S +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582713	NM_006642.5(SDCCAG8):c.1357-2A>G	SDCCAG8	Single nucleotide variant (splice acceptor variant)	Senior-Loken syndrome 7 +1 more	GLikely pathogenic
Select item 3582702	NM_006642.5(SDCCAG8):c.1356+4C>G	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582694	NM_006642.5(SDCCAG8):c.1346A>G (p.Asp449Gly)	SDCCAG8 (D148G +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582675	NM_006642.5(SDCCAG8):c.1156A>G (p.Arg386Gly)	SDCCAG8 (R386G +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582660	NM_006642.5(SDCCAG8):c.1082G>A (p.Cys361Tyr)	SDCCAG8 (C60Y +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582652	NM_006642.5(SDCCAG8):c.1003A>C (p.Ser335Arg)	SDCCAG8 (S335R +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582650	NM_006642.5(SDCCAG8):c.985dup (p.Thr329fs)	SDCCAG8 (T28fs +3 more)	Duplication (frameshift variant)	Senior-Loken syndrome 7 +1 more	GLikely pathogenic
Select item 3582643	NM_006642.5(SDCCAG8):c.975del (p.Leu326fs)	SDCCAG8 (L228fs +3 more)	Deletion (frameshift variant)	Senior-Loken syndrome 7 +1 more	GLikely pathogenic
Select item 3582626	NM_006642.5(SDCCAG8):c.930-2A>C	SDCCAG8	Single nucleotide variant (splice acceptor variant)	Senior-Loken syndrome 7 +1 more	GLikely pathogenic
Select item 3582605	NM_006642.5(SDCCAG8):c.913A>T (p.Ile305Phe)	SDCCAG8 (I305F +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582590	NM_006642.5(SDCCAG8):c.849_852del (p.Leu282_Cys283insTer)	SDCCAG8	Microsatellite (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GPathogenic
Select item 3582579	NM_006642.5(SDCCAG8):c.834_838dup (p.Gly280fs)	SDCCAG8 (G182fs +2 more)	Duplication (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely pathogenic
Select item 3582543	NM_006642.5(SDCCAG8):c.741-2A>G	SDCCAG8	Single nucleotide variant (splice acceptor variant)	Senior-Loken syndrome 7 +1 more	GLikely pathogenic
Select item 3582533	NM_006642.5(SDCCAG8):c.741-5T>A	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582519	NM_006642.5(SDCCAG8):c.722C>A (p.Ser241Tyr)	SDCCAG8 (S273Y +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582511	NM_006642.5(SDCCAG8):c.703_704del (p.Lys235fs)	SDCCAG8 (K137fs +2 more)	Deletion (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely pathogenic
Select item 3582484	NM_006642.5(SDCCAG8):c.613C>T (p.Pro205Ser)	SDCCAG8 (P107S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582478	NM_006642.5(SDCCAG8):c.590G>C (p.Gly197Ala)	SDCCAG8 (G99A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582458	NM_006642.5(SDCCAG8):c.506_507del (p.Gln169fs)	SDCCAG8 (Q169fs +1 more)	Deletion (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely pathogenic
Select item 3582450	NM_006642.5(SDCCAG8):c.497C>G (p.Ser166Cys)	SDCCAG8 (S166C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582404	NM_006642.5(SDCCAG8):c.383A>G (p.Tyr128Cys)	SDCCAG8 (Y128C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582397	NM_006642.5(SDCCAG8):c.307-1G>C	SDCCAG8	Single nucleotide variant (splice acceptor variant)	Senior-Loken syndrome 7 +1 more	GLikely pathogenic
Select item 3582396	NM_006642.5(SDCCAG8):c.306+4A>G	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582393	NM_006642.5(SDCCAG8):c.264A>C (p.Glu88Asp)	SDCCAG8 (E88D)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582385	NM_006642.5(SDCCAG8):c.238T>G (p.Leu80Val)	SDCCAG8 (L80V)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582383	NM_006642.5(SDCCAG8):c.229C>T (p.Leu77Phe)	SDCCAG8 (L77F)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582381	NM_006642.5(SDCCAG8):c.221-3T>C	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582378	NM_006642.5(SDCCAG8):c.199G>A (p.Glu67Lys)	SDCCAG8 (E67K)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582375	NM_006642.5(SDCCAG8):c.188C>T (p.Thr63Ile)	SDCCAG8 (T63I)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582364	NM_006642.5(SDCCAG8):c.127A>G (p.Ile43Val)	SDCCAG8 (I43V)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582358	NM_006642.5(SDCCAG8):c.116G>A (p.Gly39Asp)	SDCCAG8 (G39D)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582355	NM_006642.5(SDCCAG8):c.104C>A (p.Ala35Asp)	SDCCAG8 (A35D)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582352	NM_006642.5(SDCCAG8):c.61C>T (p.Leu21Phe)	SDCCAG8 (L21F)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582348	NM_006642.5(SDCCAG8):c.45dup (p.Gln16fs)	SDCCAG8 (Q16fs)	Duplication (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely pathogenic
Select item 3582346	NM_006642.5(SDCCAG8):c.25_30delinsCCCTT (p.Thr9fs)	SDCCAG8 (T9fs)	Indel (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely pathogenic
Select item 3582342	NM_006642.5(SDCCAG8):c.19A>C (p.Asn7His)	SDCCAG8 (N7H)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 3582341	NM_006642.5(SDCCAG8):c.3G>A (p.Met1Ile)	SDCCAG8 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	Senior-Loken syndrome 7 +1 more	GLikely pathogenic
Select item 3582338	NM_006642.5(SDCCAG8):c.1A>T (p.Met1Leu)	SDCCAG8 (M1L)	Single nucleotide variant (5 prime UTR variant +2 more)	Senior-Loken syndrome 7 +1 more	GLikely pathogenic
Select item 3438634	NM_006642.5(SDCCAG8):c.504A>T (p.Arg168Ser)	SDCCAG8 (R168S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3438633	NM_006642.5(SDCCAG8):c.49T>G (p.Tyr17Asp)	SDCCAG8 (Y17D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3438632	NM_006642.5(SDCCAG8):c.1715A>G (p.Gln572Arg)	SDCCAG8 (Q271R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3438631	NM_006642.5(SDCCAG8):c.223A>C (p.Asn75His)	SDCCAG8 (N75H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3391873	GRCh37/hg19 1q43-44(chr1:243204376-249224684)x1	ADSS2, AHCTF1 +69 more	Copy number loss	not provided	GPathogenic
Select item 3381773	NM_006642.5(SDCCAG8):c.1817_1818dup (p.Ala607Ter)	SDCCAG8 (A306* +3 more)	Duplication (nonsense)	Retinal dystrophy	GPathogenic
Select item 3380785	NM_006642.5(SDCCAG8):c.1109G>A (p.Arg370Lys)	SDCCAG8 (R272K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358822	NM_006642.5(SDCCAG8):c.2097C>T (p.Asp699=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	SDCCAG8-related disorder	GLikely benign
Select item 3358563	NM_006642.5(SDCCAG8):c.955C>T (p.Leu319=)	SDCCAG8	Single nucleotide variant (synonymous variant)	SDCCAG8-related disorder	GLikely benign
Select item 3358492	NM_006642.5(SDCCAG8):c.231C>T (p.Leu77=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GLikely benign
Select item 3358380	NM_006642.5(SDCCAG8):c.740+348T>C	SDCCAG8	Single nucleotide variant (5 prime UTR variant +2 more)	SDCCAG8-related disorder	GUncertain significance
Select item 3358372	NM_006642.5(SDCCAG8):c.547-4T>C	SDCCAG8	Single nucleotide variant (intron variant)	SDCCAG8-related disorder	GLikely benign
Select item 3358152	NM_006642.5(SDCCAG8):c.1160C>T (p.Ala387Val)	SDCCAG8 (A289V +3 more)	Single nucleotide variant (missense variant)	SDCCAG8-related disorder	GUncertain significance
Select item 3357669	NM_006642.5(SDCCAG8):c.675+214G>A	SDCCAG8 (R237H)	Single nucleotide variant (missense variant +2 more)	SDCCAG8-related disorder	GUncertain significance
Select item 3357447	NM_006642.5(SDCCAG8):c.1899T>C (p.Asp633=)	SDCCAG8	Single nucleotide variant (synonymous variant)	SDCCAG8-related disorder	GLikely benign
Select item 3357280	NM_006642.5(SDCCAG8):c.1069-10A>G	SDCCAG8	Single nucleotide variant (intron variant)	SDCCAG8-related disorder	GLikely benign
Select item 3356953	NM_006642.5(SDCCAG8):c.596G>C (p.Gly199Ala)	SDCCAG8 (G101A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GUncertain significance
Select item 3356741	NM_006642.5(SDCCAG8):c.2112+9C>G	AKT3, SDCCAG8	Single nucleotide variant (intron variant)	SDCCAG8-related disorder	GLikely benign
Select item 3356407	NM_006642.5(SDCCAG8):c.741-9T>C	SDCCAG8	Single nucleotide variant (intron variant)	SDCCAG8-related disorder	GLikely benign
Select item 3356164	NM_006642.5(SDCCAG8):c.1532A>G (p.Gln511Arg)	SDCCAG8 (Q210R +3 more)	Single nucleotide variant (missense variant)	SDCCAG8-related disorder	GUncertain significance
Select item 3356088	NM_006642.5(SDCCAG8):c.675+191C>A	SDCCAG8	Single nucleotide variant (synonymous variant +2 more)	SDCCAG8-related disorder	GLikely benign
Select item 3356017	NM_006642.5(SDCCAG8):c.740+350A>C	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GLikely benign
Select item 3355897	NM_006642.5(SDCCAG8):c.930-8G>A	SDCCAG8	Single nucleotide variant (intron variant)	SDCCAG8-related disorder	GLikely benign
Select item 3355850	NM_006642.5(SDCCAG8):c.1499T>C (p.Leu500Pro)	SDCCAG8 (L199P +3 more)	Single nucleotide variant (missense variant)	SDCCAG8-related disorder	GUncertain significance
Select item 3355752	NM_006642.5(SDCCAG8):c.722C>T (p.Ser241Phe)	SDCCAG8 (S143F +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GUncertain significance
Select item 3355662	NM_006642.5(SDCCAG8):c.675+213C>T	SDCCAG8 (R237C)	Single nucleotide variant (missense variant +2 more)	SDCCAG8-related disorder	GUncertain significance
Select item 3355635	NM_006642.5(SDCCAG8):c.740+3A>G	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 3355600	NM_006642.5(SDCCAG8):c.273A>G (p.Val91=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GLikely benign
Select item 3355569	NM_006642.5(SDCCAG8):c.675+190T>C	SDCCAG8 (I229T)	Single nucleotide variant (missense variant +2 more)	SDCCAG8-related disorder	GUncertain significance
Select item 3355474	NM_006642.5(SDCCAG8):c.741-10del	SDCCAG8	Deletion (intron variant)	SDCCAG8-related disorder	GLikely benign
Select item 3355380	NM_006642.5(SDCCAG8):c.675+279T>C	SDCCAG8	Single nucleotide variant (intron variant)	SDCCAG8-related disorder	GLikely benign
Select item 3355286	NM_006642.5(SDCCAG8):c.1616+4C>T	SDCCAG8	Single nucleotide variant (intron variant)	SDCCAG8-related disorder	GLikely benign
Select item 3355004	NM_006642.5(SDCCAG8):c.2021C>G (p.Ala674Gly)	AKT3, SDCCAG8 (A373G +3 more)	Single nucleotide variant (missense variant +1 more)	SDCCAG8-related disorder	GUncertain significance
Select item 3354959	NM_006642.5(SDCCAG8):c.867T>C (p.His289=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GLikely benign
Select item 3354842	NM_006642.5(SDCCAG8):c.1144_1145dup (p.Gln382fs)	SDCCAG8 (Q284fs +3 more)	Duplication (frameshift variant)	SDCCAG8-related disorder	GLikely pathogenic
Select item 3354677	NM_006642.5(SDCCAG8):c.1473+9G>A	SDCCAG8	Single nucleotide variant (intron variant)	SDCCAG8-related disorder	GLikely benign
Select item 3354463	NM_006642.5(SDCCAG8):c.675+275G>A	SDCCAG8	Single nucleotide variant (synonymous variant +2 more)	SDCCAG8-related disorder	GUncertain significance
Select item 3353986	NM_006642.5(SDCCAG8):c.1372C>T (p.Arg458Cys)	SDCCAG8 (R157C +3 more)	Single nucleotide variant (missense variant)	SDCCAG8-related disorder	GUncertain significance
Select item 3353517	NM_006642.5(SDCCAG8):c.25A>G (p.Thr9Ala)	SDCCAG8 (T9A)	Single nucleotide variant (5 prime UTR variant +1 more)	SDCCAG8-related disorder	GUncertain significance
Select item 3353462	NM_006642.5(SDCCAG8):c.675+186_675+187delinsC	SDCCAG8 (L228fs)	Indel (frameshift variant +2 more)	SDCCAG8-related disorder	GUncertain significance

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