PFKL[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +416 more	Copy number loss	See cases	GPathogenic
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	AATBC, ABCG1 +376 more	Copy number loss	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	See cases	GPathogenic
Select item 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066806, LOC130066807 +334 more	Copy number loss	See cases	GPathogenic
Select item 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	AATBC, ADARB1 +276 more	Copy number loss	See cases	GPathogenic
Select item 144193	GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1	AATBC, ADARB1 +268 more	Copy number loss	See cases	GPathogenic
Select item 545245	Single allele	KRTAP10-12, KRTAP10-2 +245 more	Duplication	Autism	GLikely pathogenic
Select item 147166	GRCh38/hg38 21q22.3(chr21:44131144-44348695)x3	AIRE, CFAP410 +28 more	Copy number gain	See cases	GLikely benign
Select item 618268	NM_002626.6(PFKL):c.-5C>T	LOC130066817, PFKL	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 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 726935	NM_002626.6(PFKL):c.86-858C>T	PFKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 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 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 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 618270	NM_002626.6(PFKL):c.343G>A (p.Val115Ile)	PFKL (V115I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 440032	NM_002626.6(PFKL):c.366C>T (p.Leu122=)	PFKL	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
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 3061136	NM_002626.6(PFKL):c.453G>C (p.Arg151=)	PFKL	Single nucleotide variant (synonymous variant)	PFKL-related disorder	GLikely benign
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 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 440034	NM_002626.6(PFKL):c.710A>T (p.Asp237Val)	PFKL (D237V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 440033	NM_002626.6(PFKL):c.747+7G>A	PFKL	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 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 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 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 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 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 3068106	NM_002626.6(PFKL):c.844-2A>G	PFKL	Single nucleotide variant (splice acceptor variant)	not provided	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 2652742	NM_002626.6(PFKL):c.924C>T (p.Phe308=)	PFKL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3211588	NM_002626.6(PFKL):c.960G>A (p.Ala320=)	PFKL	Single nucleotide variant (synonymous variant)	not provided +1 more	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 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 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 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 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 3042440	NM_002626.6(PFKL):c.1251C>T (p.Ala417=)	PFKL	Single nucleotide variant (synonymous variant)	PFKL-related disorder	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 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 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 3052119	NM_002626.6(PFKL):c.1410-5T>C	PFKL	Single nucleotide variant (intron variant)	PFKL-related disorder	GLikely benign
Select item 618269	NM_002626.6(PFKL):c.1537C>T (p.Arg513Cys)	PFKL (R513C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 3349742	NM_002626.6(PFKL):c.1593C>T (p.Asn531=)	PFKL	Single nucleotide variant (synonymous variant)	PFKL-related disorder	GLikely benign
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 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 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 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 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 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 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 790894	NM_002626.6(PFKL):c.1863G>A (p.Arg621=)	PFKL	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
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 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 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 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 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 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 3045588	NM_002626.6(PFKL):c.2115C>G (p.Asp705Glu)	PFKL (D705E +1 more)	Single nucleotide variant (missense variant)	PFKL-related disorder	GLikely benign

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