KLHL18[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 2286678	NM_025010.5(KLHL18):c.17C>T (p.Ala6Val)	KLHL18, LOC126806674 (A6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509834	NM_025010.5(KLHL18):c.37G>A (p.Val13Met)	KLHL18, LOC126806674 (V13M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264775	NM_025010.5(KLHL18):c.61C>T (p.Pro21Ser)	KLHL18, LOC126806674 (P21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270502	NM_025010.5(KLHL18):c.64A>G (p.Ser22Gly)	KLHL18, LOC126806674 (S22G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517941	NM_025010.5(KLHL18):c.115G>A (p.Asp39Asn)	KLHL18, LOC126806674 (D39N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353167	NM_025010.5(KLHL18):c.376G>A (p.Ala126Thr)	KLHL18 (A126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115518	NM_025010.5(KLHL18):c.451A>T (p.Met151Leu)	KLHL18 (M151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593974	NM_025010.5(KLHL18):c.472G>A (p.Ala158Thr)	KLHL18 (A158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266627	NM_025010.5(KLHL18):c.550G>A (p.Val184Met)	KLHL18 (V184M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532474	NM_025010.5(KLHL18):c.559C>A (p.Leu187Met)	KLHL18 (L187M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115519	NM_025010.5(KLHL18):c.569G>A (p.Arg190Gln)	KLHL18 (R190Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383098	NM_025010.5(KLHL18):c.583G>A (p.Val195Ile)	KLHL18 (V195I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288916	NM_025010.5(KLHL18):c.613G>T (p.Ala205Ser)	KLHL18 (A205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512170	NM_025010.5(KLHL18):c.653C>A (p.Pro218His)	KLHL18 (P218H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115520	NM_025010.5(KLHL18):c.688C>A (p.Pro230Thr)	KLHL18 (P230T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115521	NM_025010.5(KLHL18):c.716A>G (p.Asp239Gly)	KLHL18 (D239G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115522	NM_025010.5(KLHL18):c.806G>A (p.Arg269His)	KLHL18 (R269H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288914	NM_025010.5(KLHL18):c.928G>A (p.Asp310Asn)	KLHL18 (D310N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115523	NM_025010.5(KLHL18):c.941A>G (p.Asn314Ser)	KLHL18 (N314S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288918	NM_025010.5(KLHL18):c.982C>T (p.Arg328Cys)	KLHL18 (R328C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288917	NM_025010.5(KLHL18):c.1006G>C (p.Gly336Arg)	KLHL18 (G336R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115513	NM_025010.5(KLHL18):c.1112G>A (p.Ser371Asn)	KLHL18 (S371N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623318	NM_025010.5(KLHL18):c.1123G>A (p.Ala375Thr)	KLHL18 (A375T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115514	NM_025010.5(KLHL18):c.1174G>C (p.Asp392His)	KLHL18 (D392H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115515	NM_025010.5(KLHL18):c.1220C>T (p.Thr407Met)	KLHL18 (T407M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288915	NM_025010.5(KLHL18):c.1315G>C (p.Asp439His)	KLHL18 (D439H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288913	NM_025010.5(KLHL18):c.1456G>A (p.Asp486Asn)	KLHL18 (D486N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115516	NM_025010.5(KLHL18):c.1582G>A (p.Ala528Thr)	KLHL18 (A528T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486766	NM_025010.5(KLHL18):c.1592G>T (p.Gly531Val)	KLHL18 (G531V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115517	NM_025010.5(KLHL18):c.1663G>A (p.Ala555Thr)	KLHL18 (A555T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685916	GRCh37/hg19 3p21.31(chr3:47068320-47478497)x3	KIF9, KLHL18 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2425908	NC_000003.11:g.(?_47079136)_(47454675_?)dup	KIF9, KLHL18 +2 more	Duplication	Luscan-Lumish syndrome	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1809103	GRCh37/hg19 3p21.31(chr3:47188373-47338349)x3	KIF9, KLHL18 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808225	GRCh37/hg19 3p21.31(chr3:47188373-47350231)x3	KIF9, KLHL18 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 686277	GRCh37/hg19 3p21.31(chr3:47068320-47472020)x3	KIF9, KLHL18 +3 more	Copy number gain	not provided	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 503595	GRCh37/hg19 3p21.31(chr3:47069054-47468261)x3	PTPN23, SCAP +3 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 43