ClinVar for Gene (Select 5211) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3349742	NM_002626.6(PFKL):c.1593C>T (p.Asn531=)	PFKL	Single nucleotide variant (synonymous variant)	PFKL-related disorder	GLikely benign
Select item 3305899	NM_002626.6(PFKL):c.2276C>A (p.Ala759Asp)	PFKL (A809D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305898	NM_002626.6(PFKL):c.167A>G (p.Glu56Gly)	PFKL (E56G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305897	NM_002626.6(PFKL):c.1817T>C (p.Val606Ala)	PFKL (V606A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3305896	NM_002626.6(PFKL):c.1780G>A (p.Val594Ile)	PFKL (V644I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248207	NC_000021.8:g.(?_44296792)_(47865240_?)del	ADARB1, AGPAT3 +60 more	Deletion	not provided	GPathogenic
Select item 3248201	NC_000021.8:g.(?_45647421)_(47865240_?)dup	ADARB1, AIRE +44 more	Duplication	not provided	GUncertain significance
Select item 3248185	NC_000021.8:g.(?_45743649)_(45843615_?)del	CFAP410, PFKL +1 more	Deletion	not provided	GPathogenic
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3211588	NM_002626.6(PFKL):c.960G>A (p.Ala320=)	PFKL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3211587	NM_002626.6(PFKL):c.758G>A (p.Arg253His)	PFKL (R303H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211586	NM_002626.6(PFKL):c.637G>A (p.Gly213Arg)	PFKL (G263R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211585	NM_002626.6(PFKL):c.2312G>A (p.Arg771His)	PFKL (R771H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211584	NM_002626.6(PFKL):c.226A>G (p.Ile76Val)	PFKL (I126V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211583	NM_002626.6(PFKL):c.1724A>G (p.Tyr575Cys)	PFKL (Y625C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211581	NM_002626.6(PFKL):c.1382G>A (p.Arg461His)	PFKL (R511H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211579	NM_002626.6(PFKL):c.1003G>A (p.Val335Met)	PFKL (V335M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148842	GRCh37/hg19 21q22.3(chr21:45726806-48093361)x1	KRTAP10-4, KRTAP10-2 +44 more	Copy number loss	not provided	GUncertain significance
Select item 3068106	NM_002626.6(PFKL):c.844-2A>G	PFKL	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062430	GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1	KRTAP10-7, KRTAP10-8 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062427	GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1	DNMT3L, SLX9 +55 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 3061136	NM_002626.6(PFKL):c.453G>C (p.Arg151=)	PFKL	Single nucleotide variant (synonymous variant)	PFKL-related disorder	GLikely benign
Select item 3059937	NM_002626.6(PFKL):c.86-818C>T	PFKL (R55*)	Single nucleotide variant (nonsense +1 more)	PFKL-related disorder	GBenign
Select item 3052119	NM_002626.6(PFKL):c.1410-5T>C	PFKL	Single nucleotide variant (intron variant)	PFKL-related disorder	GLikely benign
Select item 3049499	NM_002626.6(PFKL):c.2283C>T (p.Tyr761=)	PFKL	Single nucleotide variant (synonymous variant)	PFKL-related disorder	GLikely benign
Select item 3045588	NM_002626.6(PFKL):c.2115C>G (p.Asp705Glu)	PFKL (D705E +1 more)	Single nucleotide variant (missense variant)	PFKL-related disorder	GLikely benign
Select item 3043307	NM_002626.6(PFKL):c.987T>G (p.Pro329=)	PFKL	Single nucleotide variant (synonymous variant)	PFKL-related disorder	GLikely benign
Select item 3042440	NM_002626.6(PFKL):c.1251C>T (p.Ala417=)	PFKL	Single nucleotide variant (synonymous variant)	PFKL-related disorder	GLikely benign
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684917	GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3	ABCG1, ADARB1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2652742	NM_002626.6(PFKL):c.924C>T (p.Phe308=)	PFKL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621826	NM_002626.6(PFKL):c.2049G>T (p.Met683Ile)	PFKL (M683I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620603	NM_002626.6(PFKL):c.1565G>A (p.Cys522Tyr)	PFKL (C522Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606087	NM_002626.6(PFKL):c.37G>T (p.Gly13Cys)	LOC130066817, PFKL (G13C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2602607	NM_002626.6(PFKL):c.829A>G (p.Ser277Gly)	PFKL (S327G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594588	NM_002626.6(PFKL):c.1954G>A (p.Asp652Asn)	PFKL (D702N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556641	NM_002626.6(PFKL):c.1597C>A (p.Pro533Thr)	PFKL (P583T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547878	NM_002626.6(PFKL):c.293G>A (p.Arg98His)	PFKL (R98H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541016	NM_002626.6(PFKL):c.1705G>A (p.Val569Met)	PFKL (V619M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532348	NM_002626.6(PFKL):c.298G>A (p.Ala100Thr)	PFKL (A150T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2531862	NM_002626.6(PFKL):c.31G>A (p.Ala11Thr)	LOC130066817, PFKL (A11T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2509232	NM_002626.6(PFKL):c.1241T>C (p.Met414Thr)	PFKL (M414T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490406	NM_002626.6(PFKL):c.1360G>A (p.Asp454Asn)	PFKL (D454N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2467137	NM_002626.6(PFKL):c.1268G>A (p.Arg423Gln)	PFKL (R473Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465787	NM_002626.6(PFKL):c.2014C>T (p.Arg672Trp)	PFKL (R672W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462107	NM_002626.6(PFKL):c.1642G>A (p.Ala548Thr)	PFKL (A548T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461512	NM_002626.6(PFKL):c.995C>T (p.Pro332Leu)	PFKL (P382L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422993	NC_000021.8:g.(?_45709520)_(45759077_?)dup	AIRE, CFAP410 +1 more	Duplication	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2422361	NC_000021.8:g.(?_43160998)_(47754702_?)del	ABCG1, ADARB1 +74 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2383633	NM_002626.6(PFKL):c.452G>A (p.Arg151Gln)	PFKL (R151Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363838	NM_002626.6(PFKL):c.992C>T (p.Thr331Met)	PFKL (T331M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353891	NM_002626.6(PFKL):c.472A>G (p.Ile158Val)	PFKL (I158V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353373	NM_002626.6(PFKL):c.1660C>T (p.Arg554Cys)	PFKL (R554C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303576	NM_002626.6(PFKL):c.868G>A (p.Asp290Asn)	PFKL (D340N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290744	NM_002626.6(PFKL):c.809A>G (p.Asn270Ser)	PFKL (N270S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286598	NM_002626.6(PFKL):c.757C>T (p.Arg253Cys)	PFKL (R253C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284490	NM_002626.6(PFKL):c.2125G>A (p.Val709Met)	PFKL (V709M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275349	NM_002626.6(PFKL):c.2084G>A (p.Arg695His)	PFKL (R695H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251845	NM_002626.6(PFKL):c.2279C>T (p.Ala760Val)	PFKL (A810V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245348	NM_002626.6(PFKL):c.805C>T (p.Arg269Cys)	PFKL (R269C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244473	NM_002626.6(PFKL):c.925G>T (p.Asp309Tyr)	PFKL (D359Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243046	NM_002626.6(PFKL):c.285G>C (p.Arg95Ser)	PFKL (R145S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208214	NM_002626.6(PFKL):c.811G>A (p.Gly271Arg)	PFKL (G271R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809380	GRCh37/hg19 21q22.3(chr21:45460343-45817256)x3	AIRE, CFAP410 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1809073	GRCh37/hg19 21q22.3(chr21:45727195-46161988)x4	CFAP410, KRTAP10-1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	Down syndrome	GPathogenic
Select item 1703616	GRCh37/hg19 21q22.3(chr21:42679089-48097372)	ABCG1, ADARB1 +81 more	Copy number loss	Delayed speech and language development	GPathogenic
Select item 1526724	GRCh37/hg19 21q22.3(chr21:45265857-47057233)	ADARB1, AGPAT3 +38 more	Copy number loss	not specified	GPathogenic
Select item 1526720	GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)	ABCG1, ADARB1 +83 more	Copy number loss	not specified	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	ADAMTS1, ADAMTS5 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KCNJ15, N6AMT1 +216 more	Copy number gain	not specified	GPathogenic
Select item 1458311	NC_000021.8:g.(?_43160998)_(47865240_?)del	ABCG1, ADARB1 +74 more	Deletion	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GPathogenic
Select item 1447702	NC_000021.8:g.(?_44473990)_(47865240_?)dup	ADARB1, AGPAT3 +57 more	Duplication	not provided	GUncertain significance
Select item 1409580	NC_000021.8:g.(?_43160998)_(47865240_?)dup	KRTAP10-9, KRTAP12-1 +74 more	Duplication	Cataract 9 multiple types +2 more	GUncertain significance
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	COL6A2, KRTAP20-3 +220 more	Copy number gain	See cases	GPathogenic
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 833483	NC_000021.8:g.(?_45725202)_(46234019_?)dup	CFAP410, KRTAP10-1 +21 more	Duplication	not provided	GUncertain significance
Select item 833361	NC_000021.8:g.(?_45725202)_(46131429_?)dup	CFAP410, KRTAP10-1 +19 more	Duplication	not provided	GUncertain significance
Select item 833347	NC_000021.9:g.(?_44305319)_(44338455_?)dup	CFAP410, PFKL	Duplication	not provided	GUncertain significance
Select item 830669	NC_000021.8:g.(?_43792871)_(46330697_?)dup	KRTAP10-2, KRTAP10-3 +47 more	Duplication	not provided	GUncertain significance
Select item 830536	NC_000021.8:g.(?_45725202)_(45929269_?)dup	CFAP410, LRRC3 +3 more	Duplication	not provided	GUncertain significance
Select item 816508	GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3	ABCG1, ADARB1 +84 more	Copy number gain	See cases	GPathogenic
Select item 816179	GRCh37/hg19 21q22.3(chr21:45490774-48097372)x1	ADARB1, AIRE +50 more	Copy number loss	not provided	GLikely pathogenic
Select item 816178	GRCh37/hg19 21q22.3(chr21:45125672-48097372)x1	ADARB1, AGPAT3 +54 more	Copy number loss	not provided	GUncertain significance
Select item 816172	GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1	ABCG1, ADARB1 +73 more	Copy number loss	not provided	GPathogenic
Select item 811844	NM_002626.6(PFKL):c.1957T>C (p.Cys653Arg)	PFKL (C653R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 811805	NM_002626.6(PFKL):c.2212G>A (p.Glu738Lys)	PFKL (E738K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 811664	NM_002626.6(PFKL):c.1907C>A (p.Thr636Lys)	PFKL (T636K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 811230	NM_002626.6(PFKL):c.175G>A (p.Val59Met)	PFKL (V109M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790894	NM_002626.6(PFKL):c.1863G>A (p.Arg621=)	PFKL	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 788320	NM_002626.6(PFKL):c.2150T>C (p.Val717Ala)	PFKL (V767A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign

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