ClinVar for Gene (Select 128897170) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1317869	NC_000002.12:g.10043500G>A	KLF11, LOC128897170	Single nucleotide variant	not provided	GLikely benign
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 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 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 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 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 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 330619	NM_003597.5(KLF11):c.-95GCC[7]	KLF11, LOC128897170	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 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	GUncertain significance
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 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129932995, LOC129932996 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	LOC129933180, LOC129933181 +498 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	LOC126806154, LOC126806155 +546 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	ACP1, ADAM17 +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 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 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

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Links from Gene

Items: 24