"GeneDx"[submitter] AND "KLF11"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1317896	NM_003597.5(KLF11):c.-157C>T	KLF11, LOC128897170	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
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 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 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 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 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 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 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 330627	NM_003597.5(KLF11):c.429C>T (p.Ala143=)	KLF11	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 6499	NM_003597.5(KLF11):c.659C>T (p.Thr220Met)	KLF11 (T220M +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +3 more	GBenign/Likely benign
Select item 1243927	NM_003597.5(KLF11):c.1258+335dup	KLF11	Duplication (intron variant)	not provided	GBenign
Select item 1264111	NM_003597.5(KLF11):c.1258+334_1258+335del	KLF11	Deletion (intron variant)	not provided	GBenign
Select item 1253909	NM_003597.5(KLF11):c.1258+333_1258+335del	KLF11	Deletion (intron variant)	not provided	GBenign
Select item 1240761	NM_003597.5(KLF11):c.1258+335del	KLF11	Deletion (intron variant)	not provided	GBenign
Select item 1245399	NM_003597.5(KLF11):c.1259-312C>T	KLF11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317979	NM_003597.5(KLF11):c.*43C>T	KLF11	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 330646	NM_003597.5(KLF11):c.*194G>A	KLF11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 7 +1 more	GBenign/Likely benign
Select item 1317563	NM_003597.5(KLF11):c.225_227dup	KLF11	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 330649	NM_003597.5(KLF11):c.226_227dup	KLF11	Duplication (3 prime UTR variant)	not provided +1 more	GBenign
Select item 330648	NM_003597.5(KLF11):c.*227dup	KLF11	Duplication (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 1317962	NM_003597.5(KLF11):c.*218T>G	KLF11	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 330651	NM_003597.5(KLF11):c.*235T>C	KLF11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 7 +1 more	GBenign/Likely benign
Select item 330652	NM_003597.5(KLF11):c.*241A>G	KLF11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 7 +1 more	GBenign/Likely benign

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Items: 33