KLF11[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 1316851	NC_000002.12:g.10043421A>G	KLF11, LOC128897170	Single nucleotide variant	not provided	GLikely benign
Select item 1264076	NC_000002.12:g.10043428_10043438dup	KLF11, LOC128897170	Duplication	not provided	GBenign
Select item 1317869	NC_000002.12:g.10043500G>A	KLF11, LOC128897170	Single nucleotide variant	not provided	GLikely benign
Select item 893950	NM_003597.5(KLF11):c.-159G>A	KLF11, LOC128897170	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 7	GUncertain significance
Select item 1317896	NM_003597.5(KLF11):c.-157C>T	KLF11, LOC128897170	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 330616	NM_003597.5(KLF11):c.-146C>T	KLF11, LOC128897170	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 7	GUncertain significance
Select item 893951	NM_003597.5(KLF11):c.-108G>A	KLF11, LOC128897170	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 7	GUncertain significance
Select item 330617	NM_003597.5(KLF11):c.-104C>T	KLF11, LOC128897170	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 7 +1 more	GUncertain significance
Select item 330619	NM_003597.5(KLF11):c.-95GCC[7]	LOC128897170, KLF11	Microsatellite (5 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 330618	NM_003597.5(KLF11):c.-95GCC[5]	KLF11, LOC128897170	Microsatellite (5 prime UTR variant)	not provided +1 more	GBenign
Select item 893952	NM_003597.5(KLF11):c.-83G>A	KLF11, LOC128897170	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 7	GUncertain significance
Select item 893953	NM_003597.5(KLF11):c.-76G>A	KLF11, LOC128897170	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 7	GUncertain significance
Select item 330620	NM_003597.5(KLF11):c.-31G>A	KLF11, LOC128897170	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 7	GUncertain significance
Select item 259093	NM_003597.5(KLF11):c.-9G>A	KLF11	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1625144	NM_003597.5(KLF11):c.12G>A (p.Pro4=)	KLF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 330621	NM_003597.5(KLF11):c.18C>T (p.Phe6=)	KLF11	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 7	GUncertain significance
Select item 2555842	NM_003597.5(KLF11):c.20C>T (p.Ala7Val)	KLF11 (A7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435654	NM_003597.5(KLF11):c.22G>C (p.Gly8Arg)	KLF11 (G8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 523462	NM_003597.5(KLF11):c.23G>A (p.Gly8Asp)	KLF11 (G8D)	Single nucleotide variant (missense variant)	Hyperglycemia +1 more	GUncertain significance
Select item 1337155	NM_003597.5(KLF11):c.24C>G (p.Gly8=)	KLF11	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 894352	NM_003597.5(KLF11):c.25C>T (p.Pro9Ser)	KLF11 (P9S)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 7	GUncertain significance
Select item 1336340	NM_003597.5(KLF11):c.33C>T (p.Asp11=)	KLF11	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3030616	NM_003597.5(KLF11):c.35C>A (p.Ala12Glu)	KLF11 (A12E)	Single nucleotide variant (missense variant)	KLF11-related disorder	GUncertain significance
Select item 2018955	NM_003597.5(KLF11):c.36G>A (p.Ala12=)	KLF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979566	NM_003597.5(KLF11):c.42A>G (p.Ala14=)	KLF11	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2991536	NM_003597.5(KLF11):c.42+10G>A	KLF11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1898615	NM_003597.5(KLF11):c.42+16_42+29dup	KLF11	Duplication (intron variant)	not provided	GUncertain significance
Select item 1635997	NM_003597.5(KLF11):c.42+18C>G	KLF11	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 7 +1 more	GLikely benign
Select item 1638517	NM_003597.5(KLF11):c.42+19G>A	KLF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226286	NM_003597.5(KLF11):c.42+85A>G	KLF11	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1244261	NM_003597.5(KLF11):c.42+264G>T	KLF11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316552	NM_003597.5(KLF11):c.42+310C>T	KLF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1566008	NM_003597.5(KLF11):c.43-9C>T	KLF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896328	NM_003597.5(KLF11):c.43-6C>G	KLF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2168959	NM_003597.5(KLF11):c.49A>G (p.Ile17Val)	KLF11 (I17V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2582749	NM_003597.5(KLF11):c.57C>A (p.Asp19Glu)	KLF11 (D19E +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 7	GUncertain significance
Select item 2476421	NM_003597.5(KLF11):c.74T>C (p.Leu25Pro)	KLF11 (L25P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 330622	NM_003597.5(KLF11):c.86G>A (p.Arg29Gln)	KLF11 (R29Q +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GBenign/Likely benign
Select item 1449673	NM_003597.5(KLF11):c.145G>A (p.Glu49Lys)	KLF11 (E32K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706483	NM_003597.5(KLF11):c.177A>G (p.Gln59=)	KLF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 129431	NM_003597.5(KLF11):c.185A>G (p.Gln62Arg)	KLF11 (Q62R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1996878	NM_003597.5(KLF11):c.189A>G (p.Lys63=)	KLF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1629314	NM_003597.5(KLF11):c.196C>T (p.Leu66=)	KLF11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1316948	NM_003597.5(KLF11):c.225C>T (p.Val75=)	KLF11	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2718635	NM_003597.5(KLF11):c.241G>A (p.Val81Ile)	KLF11 (V64I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505654	NM_003597.5(KLF11):c.245C>A (p.Thr82Asn)	KLF11 (T65N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650667	NM_003597.5(KLF11):c.248C>T (p.Thr83Ile)	KLF11 (T66I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3048571	NM_003597.5(KLF11):c.252T>A (p.Thr84=)	KLF11	Single nucleotide variant (synonymous variant)	KLF11-related disorder	GLikely benign
Select item 330623	NM_003597.5(KLF11):c.259A>G (p.Met87Val)	KLF11 (M87V +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 7	GUncertain significance
Select item 3288805	NM_003597.5(KLF11):c.260T>G (p.Met87Arg)	KLF11 (M70R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 330624	NM_003597.5(KLF11):c.266C>T (p.Ala89Val)	KLF11 (A89V +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 7	GUncertain significance
Select item 2779688	NM_003597.5(KLF11):c.274C>G (p.Pro92Ala)	KLF11 (P75A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982696	NM_003597.5(KLF11):c.275C>T (p.Pro92Leu)	KLF11 (P92L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3115267	NM_003597.5(KLF11):c.278A>G (p.Glu93Gly)	KLF11 (E76G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 330625	NM_003597.5(KLF11):c.305C>G (p.Ser102Trp)	KLF11 (S102W +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 7	GUncertain significance
Select item 2580180	NM_003597.5(KLF11):c.308C>T (p.Thr103Ile)	KLF11 (T103I +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 7	GUncertain significance
Select item 2758044	NM_003597.5(KLF11):c.312G>C (p.Leu104=)	KLF11	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3032003	NM_003597.5(KLF11):c.312+10G>T	KLF11	Single nucleotide variant (intron variant)	KLF11-related disorder	GLikely benign
Select item 1317530	NM_003597.5(KLF11):c.313-266T>C	KLF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283846	NM_003597.5(KLF11):c.313-244G>C	KLF11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316145	NM_003597.5(KLF11):c.313-207C>G	KLF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1574064	NM_003597.5(KLF11):c.313-3del	KLF11	Deletion (intron variant)	not provided	GBenign
Select item 1399585	NM_003597.5(KLF11):c.314G>T (p.Cys105Phe)	KLF11 (C88F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1336628	NM_003597.5(KLF11):c.333C>T (p.Ser111=)	KLF11	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2321449	NM_003597.5(KLF11):c.350C>T (p.Pro117Leu)	KLF11 (P100L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 894353	NM_003597.5(KLF11):c.351A>G (p.Pro117=)	KLF11	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 7	GUncertain significance
Select item 2152711	NM_003597.5(KLF11):c.353C>T (p.Ser118Leu)	KLF11 (S101L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 330626	NM_003597.5(KLF11):c.358A>G (p.Arg120Gly)	KLF11 (R120G +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 7	GUncertain significance
Select item 1988860	NM_003597.5(KLF11):c.407C>T (p.Thr136Met)	KLF11 (T136M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896821	NM_003597.5(KLF11):c.408G>A (p.Thr136=)	KLF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 129430	NM_003597.5(KLF11):c.410A>G (p.Asp137Gly)	KLF11 (D137G +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GBenign/Likely benign
Select item 2489585	NM_003597.5(KLF11):c.412G>A (p.Val138Ile)	KLF11 (V138I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2327364	NM_003597.5(KLF11):c.422C>T (p.Ser141Phe)	KLF11 (S124F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2118754	NM_003597.5(KLF11):c.428C>T (p.Ala143Val)	KLF11 (A126V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 330627	NM_003597.5(KLF11):c.429C>T (p.Ala143=)	KLF11	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 892905	NM_003597.5(KLF11):c.431T>C (p.Val144Ala)	KLF11 (V127A +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 7	GUncertain significance
Select item 1430360	NM_003597.5(KLF11):c.437C>T (p.Ala146Val)	KLF11 (A146V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2246492	NM_003597.5(KLF11):c.451G>C (p.Gly151Arg)	KLF11 (G134R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2375218	NM_003597.5(KLF11):c.458C>T (p.Ala153Val)	KLF11 (A153V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2905477	NM_003597.5(KLF11):c.459G>A (p.Ala153=)	KLF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 129432	NM_003597.5(KLF11):c.467G>T (p.Gly156Val)	KLF11 (G156V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 330628	NM_003597.5(KLF11):c.486A>G (p.Pro162=)	KLF11	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2890457	NM_003597.5(KLF11):c.487G>C (p.Val163Leu)	KLF11 (V146L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 892906	NM_003597.5(KLF11):c.501C>T (p.Pro167=)	KLF11	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 7	GUncertain significance
Select item 3288806	NM_003597.5(KLF11):c.503G>C (p.Cys168Ser)	KLF11 (C168S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2772807	NM_003597.5(KLF11):c.508G>A (p.Ala170Thr)	KLF11 (A153T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866519	NM_003597.5(KLF11):c.518C>G (p.Thr173Ser)	KLF11 (T156S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966825	NM_003597.5(KLF11):c.522C>T (p.Ser174=)	KLF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1930375	NM_003597.5(KLF11):c.523G>A (p.Val175Met)	KLF11 (V175M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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