6348[HGNC] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 2579281	GRCh38/hg38 9q31.1-31.3(chr9:102995214-108903040)x1	ABCA1, ACTL7A +109 more	Copy number loss	Weiss-Kruszka syndrome	GPathogenic
Select item 145648	GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1	ABCA1, ABITRAM +310 more	Copy number loss	See cases	GPathogenic
Select item 58480	GRCh38/hg38 9q31.2(chr9:106998471-107651321)x3	KLF4, LINC01509 +13 more	Copy number gain	See cases	GUncertain significance
Select item 783554	NM_004235.6(KLF4):c.1404G>A (p.Ser468=)	KLF4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3032670	NM_004235.6(KLF4):c.1189A>T (p.Thr397Ser)	KLF4 (T397S +1 more)	Single nucleotide variant (missense variant)	KLF4-related disorder	GUncertain significance
Select item 3054922	NM_004235.6(KLF4):c.1179C>T (p.Thr393=)	KLF4	Single nucleotide variant (synonymous variant)	KLF4-related disorder	GLikely benign
Select item 720675	NM_004235.6(KLF4):c.1158A>G (p.Arg386=)	KLF4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3115326	NM_004235.6(KLF4):c.1123A>G (p.Met375Val)	KLF4 (M375V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254862	NM_004235.6(KLF4):c.1115G>C (p.Gly372Ala)	KLF4 (G406A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784147	NM_004235.6(KLF4):c.1113C>T (p.Pro371=)	KLF4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3033832	NM_004235.6(KLF4):c.1100-7C>A	KLF4 (P399T)	Single nucleotide variant (missense variant +1 more)	KLF4-related disorder	GBenign
Select item 2387848	NM_004235.6(KLF4):c.1085C>G (p.Pro362Arg)	KLF4 (P362R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748147	NM_004235.6(KLF4):c.1059C>G (p.Pro353=)	KLF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3288830	NM_004235.6(KLF4):c.1054C>G (p.Leu352Val)	KLF4 (L352V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726083	NM_004235.6(KLF4):c.973C>T (p.Leu325=)	KLF4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2558069	NM_004235.6(KLF4):c.970G>T (p.Val324Leu)	KLF4 (V324L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3115333	NM_004235.6(KLF4):c.901G>C (p.Ala301Pro)	KLF4 (A301P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2315958	NM_004235.6(KLF4):c.884G>A (p.Ser295Asn)	KLF4 (S295N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459391	NM_004235.6(KLF4):c.872G>T (p.Gly291Val)	KLF4 (G291V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044586	NM_004235.6(KLF4):c.859C>T (p.His287Tyr)	KLF4 (H287Y)	Single nucleotide variant (missense variant)	KLF4-related disorder	GLikely benign
Select item 3115332	NM_004235.6(KLF4):c.821G>A (p.Cys274Tyr)	KLF4 (C274Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554078	NM_004235.6(KLF4):c.779C>T (p.Pro260Leu)	KLF4 (P260L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378848	NM_004235.6(KLF4):c.779C>G (p.Pro260Arg)	KLF4 (P260R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479128	NM_004235.6(KLF4):c.767A>G (p.Asp256Gly)	KLF4 (D256G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774467	NM_004235.6(KLF4):c.716_766del (p.Gly239_Pro255del)	KLF4	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2466847	NM_004235.6(KLF4):c.715G>A (p.Gly239Ser)	KLF4 (G239S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734740	NM_004235.6(KLF4):c.691C>T (p.Leu231=)	KLF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3115331	NM_004235.6(KLF4):c.682A>C (p.Lys228Gln)	KLF4 (K228Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322396	NM_004235.6(KLF4):c.616C>T (p.Pro206Ser)	KLF4 (P206S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377792	NM_004235.6(KLF4):c.577G>C (p.Val193Leu)	KLF4 (V193L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115330	NM_004235.6(KLF4):c.518A>G (p.Tyr173Cys)	KLF4 (Y173C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042196	NM_004235.6(KLF4):c.504C>T (p.Gly168=)	KLF4	Single nucleotide variant (synonymous variant)	KLF4-related disorder	GBenign
Select item 2522130	NM_004235.6(KLF4):c.494G>C (p.Gly165Ala)	KLF4 (G165A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623982	NM_004235.6(KLF4):c.491C>T (p.Pro164Leu)	KLF4 (P164L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037982	NM_004235.6(KLF4):c.489G>T (p.Ala163=)	KLF4	Single nucleotide variant (synonymous variant)	KLF4-related disorder	GBenign
Select item 3033686	NM_004235.6(KLF4):c.456T>C (p.Tyr152=)	KLF4	Single nucleotide variant (synonymous variant)	KLF4-related disorder	GLikely benign
Select item 3115329	NM_004235.6(KLF4):c.431C>T (p.Ala144Val)	KLF4 (A144V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115328	NM_004235.6(KLF4):c.430G>C (p.Ala144Pro)	KLF4 (A144P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533369	NM_004235.6(KLF4):c.404C>T (p.Ser135Leu)	KLF4 (S135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604112	NM_004235.6(KLF4):c.350C>T (p.Pro117Leu)	KLF4 (P117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288831	NM_004235.6(KLF4):c.349C>G (p.Pro117Ala)	KLF4 (P117A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383770	NM_004235.6(KLF4):c.346C>T (p.Pro116Ser)	KLF4 (P116S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634269	NM_004235.6(KLF4):c.341C>A (p.Thr114Asn)	KLF4 (T114N)	Single nucleotide variant (missense variant)	KLF4-related disorder	GUncertain significance
Select item 3053769	NM_004235.6(KLF4):c.306C>G (p.Leu102=)	KLF4	Single nucleotide variant (synonymous variant)	KLF4-related disorder	GLikely benign
Select item 3115327	NM_004235.6(KLF4):c.262C>A (p.Leu88Met)	KLF4 (L88M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353317	NM_004235.6(KLF4):c.259A>G (p.Asn87Asp)	KLF4 (N87D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247459	NM_004235.6(KLF4):c.253G>A (p.Gly85Ser)	KLF4 (G85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462266	NM_004235.6(KLF4):c.208G>A (p.Val70Met)	KLF4 (V70M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327134	NM_004235.6(KLF4):c.208G>T (p.Val70Leu)	KLF4 (V70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725601	NM_004235.6(KLF4):c.122A>G (p.Asn41Ser)	KLF4 (N41S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3288829	NM_004235.6(KLF4):c.47T>C (p.Leu16Pro)	KLF4 (L16P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527542	GRCh37/hg19 9q31.2-32(chr9:109265628-117650999)	ABITRAM, ACTL7A +61 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	not specified	GPathogenic
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1341248	GRCh37/hg19 9q31.1-31.2(chr9:102858276-110624997)x3	ABCA1, ALDOB +34 more	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 563674	GRCh37/hg19 9q31.1-31.3(chr9:106487247-114541579)x1	TXN, FKTN +44 more	Copy number loss	not provided	GPathogenic
Select item 563672	GRCh37/hg19 9q31.2-32(chr9:108664157-115356416)x3	LPAR1, EPB41L4B +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394229	GRCh37/hg19 9q31.1-31.3(chr9:103271401-113948226)x1	ABCA1, ABITRAM +48 more	Copy number loss	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 84