ClinVar for Gene (Select 51274) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340118	NM_016531.6(KLF3):c.856+2T>C	KLF3	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 3288828	NM_016531.6(KLF3):c.340G>A (p.Val114Met)	KLF3 (V114M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115325	NM_016531.6(KLF3):c.967C>T (p.Pro323Ser)	KLF3 (P323S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115323	NM_016531.6(KLF3):c.613C>T (p.Pro205Ser)	KLF3 (P205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115322	NM_016531.6(KLF3):c.266G>A (p.Arg89Gln)	KLF3 (R89Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115321	NM_016531.6(KLF3):c.217C>A (p.Pro73Thr)	KLF3 (P73T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115320	NM_016531.6(KLF3):c.122C>T (p.Pro41Leu)	KLF3 (P41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2681355	NM_016531.6(KLF3):c.701A>G (p.His234Arg)	KLF3 (H234R)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2344164	NM_016531.6(KLF3):c.413G>C (p.Ser138Thr)	KLF3 (S138T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320351	NM_016531.6(KLF3):c.649C>G (p.Pro217Ala)	KLF3 (P217A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311980	NM_016531.6(KLF3):c.325C>T (p.Pro109Ser)	KLF3 (P109S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252127	NM_016531.6(KLF3):c.260C>T (p.Ser87Leu)	KLF3 (S87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204109	NM_016531.6(KLF3):c.19G>C (p.Val7Leu)	KLF3 (V7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809112	GRCh37/hg19 4p14(chr4:38589565-38926476)x3	FAM114A1, KLF3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1340273	GRCh37/hg19 4p14(chr4:38459610-38724190)x3	KLF3	Copy number gain	not provided	GUncertain significance
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 32