KLHL2[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 147409	GRCh38/hg38 4q32.1-32.3(chr4:158387928-166845726)x3	ANP32C, APELA +130 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 155028	GRCh38/hg38 4q32.2-32.3(chr4:161590861-165734658)x3	ANP32C, APELA +65 more	Copy number gain	See cases	GUncertain significance
Select item 58048	GRCh38/hg38 4q32.2-32.3(chr4:161592038-165721577)x3	MIR578, MSMO1 +64 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	MTNR1A, NAF1 +535 more	Copy number gain	See cases	GPathogenic
Select item 59484	GRCh38/hg38 4q32.2-34.1(chr4:162723818-172501433)x1	AADAT, ANP32C +158 more	Copy number loss	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993482, LOC129993483 +509 more	Copy number loss	See cases	GPathogenic
Select item 154254	GRCh38/hg38 4q32.3(chr4:164837643-167576305)x1	APELA, CPE +49 more	Copy number loss	See cases	GUncertain significance
Select item 146650	GRCh38/hg38 4q32.3(chr4:164958519-165250486)x3	FAM218A, KLHL2 +10 more	Copy number gain	See cases	GBenign
Select item 2393479	NM_007246.4(KLHL2):c.40G>T (p.Gly14Cys)	KLHL2 (G14C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655168	NM_007246.4(KLHL2):c.78C>T (p.Thr26=)	KLHL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3115527	NM_007246.4(KLHL2):c.178A>C (p.Ile60Leu)	KLHL2 (I64L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288919	NM_007246.4(KLHL2):c.301G>A (p.Glu101Lys)	KLHL2 (E101K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115528	NM_007246.4(KLHL2):c.359A>T (p.Gln120Leu)	KLHL2 (Q124L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457975	NM_007246.4(KLHL2):c.485G>A (p.Arg162Gln)	KLHL2 (R162Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	LOC129993424, LOC129993425 +485 more	Copy number loss	See cases	GPathogenic
Select item 3115529	NM_007246.4(KLHL2):c.730C>T (p.His244Tyr)	KLHL2 (H156Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552458	NM_007246.4(KLHL2):c.781G>A (p.Glu261Lys)	KLHL2 (E261K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115530	NM_007246.4(KLHL2):c.803G>A (p.Ser268Asn)	KLHL2 (S272N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600623	NM_007246.4(KLHL2):c.884T>A (p.Val295Asp)	KLHL2 (V129D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655169	NM_007246.4(KLHL2):c.891C>G (p.Thr297=)	KLHL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3288920	NM_007246.4(KLHL2):c.958A>G (p.Ile320Val)	KLHL2 (I320V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480774	NM_007246.4(KLHL2):c.995G>A (p.Arg332Lys)	KLHL2 (R332K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115524	NM_007246.4(KLHL2):c.1136A>G (p.Gln379Arg)	KLHL2 (Q213R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115525	NM_007246.4(KLHL2):c.1264A>G (p.Ile422Val)	KLHL2 (I334V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266889	NM_007246.4(KLHL2):c.1411G>C (p.Ala471Pro)	KLHL2 (A374P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233695	NM_007246.4(KLHL2):c.1515T>A (p.Asp505Glu)	KLHL2 (D408E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330508	NM_007246.4(KLHL2):c.1549G>A (p.Asp517Asn)	KLHL2 (D429N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115526	NM_007246.4(KLHL2):c.1564G>A (p.Ala522Thr)	KLHL2 (A356T +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685997	GRCh37/hg19 4q32.3(chr4:165746311-166148332)x3	FAM218A, KLHL2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 1808190	GRCh37/hg19 4q32.1-32.3(chr4:161461677-166911259)x1	ANP32C, CPE +14 more	Copy number loss	not provided	GUncertain significance
Select item 1807909	GRCh37/hg19 4q32.3(chr4:164980534-166223066)x3	ANP32C, FAM218A +5 more	Copy number gain	not provided	GUncertain significance
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	CYP4V2, HAND2 +93 more	Copy number loss	See cases	GPathogenic
Select item 1527133	GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	AADAT, ACSL1 +86 more	Copy number gain	not specified	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 1047894	GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278)	AADAT, ANP32C +39 more	Copy number loss	Autism with high cognitive abilities	GPathogenic
Select item 814622	GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1	SCRG1, SH3RF1 +79 more	Copy number loss	not provided	GPathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 685559	GRCh37/hg19 4q32.3-34.2(chr4:165069355-177189728)x3	CPE, DDX60 +36 more	Copy number gain	not provided	GPathogenic
Select item 562989	GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3	AADAT, ACSL1 +92 more	Copy number gain	not provided	GPathogenic
Select item 562986	GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3	AADAT, ADAM29 +60 more	Copy number gain	not provided	GPathogenic
Select item 560098	Single allele	CBR4, CLCN3 +23 more	Deletion	not provided	GLikely pathogenic
Select item 443800	GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3	AADAT, ACSL1 +102 more	Copy number gain	See cases	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441736	GRCh37/hg19 4q32.2-34.3(chr4:162205710-182329883)x1	AADAT, ADAM29 +46 more	Copy number loss	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 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	AADAT, ACSL1 +118 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 253675	GRCh37/hg19 4q32.2-34.2(chr4:162344510-177103037)x1	AADAT, ADAM29 +40 more	Copy number loss	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic

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Items: 68