ClinVar for Gene (Select 27252) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3252817	NM_014458.4(KLHL20):c.500C>T (p.Pro167Leu)	KLHL20 (P167L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3248010	NC_000001.10:g.(?_171604992)_(173962123_?)dup	ANKRD45, C1orf105 +22 more	Duplication	not provided	GUncertain significance
Select item 3115534	NM_014458.4(KLHL20):c.708G>T (p.Met236Ile)	KLHL20 (M236I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115533	NM_014458.4(KLHL20):c.656C>T (p.Ser219Phe)	KLHL20 (S219F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115532	NM_014458.4(KLHL20):c.1340G>A (p.Ser447Asn)	KLHL20 (S447N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115531	NM_014458.4(KLHL20):c.1231C>G (p.Leu411Val)	KLHL20 (L411V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062855	GRCh37/hg19 1q25.1(chr1:173701568-173961992)x3	CENPL, DARS2 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 2663248	NM_014458.4(KLHL20):c.26G>T (p.Cys9Phe)	KLHL20 (C9F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2543924	NM_014458.4(KLHL20):c.788G>C (p.Ser263Thr)	KLHL20 (S263T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515874	NM_014458.4(KLHL20):c.38G>T (p.Arg13Leu)	KLHL20 (R13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504779	NM_014458.4(KLHL20):c.745C>A (p.Gln249Lys)	KLHL20 (Q249K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2335715	NM_014458.4(KLHL20):c.1242T>G (p.Phe414Leu)	KLHL20 (F414L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306033	NM_014458.4(KLHL20):c.1477A>G (p.Met493Val)	KLHL20 (M493V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274216	NM_014458.4(KLHL20):c.1801A>G (p.Met601Val)	KLHL20 (M601V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204919	NM_014458.4(KLHL20):c.242C>G (p.Ala81Gly)	KLHL20 (A81G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1803743	NM_014458.4(KLHL20):c.1100T>C (p.Leu367Ser)	KLHL20 (L367S)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1723083	NM_014458.4(KLHL20):c.971G>A (p.Gly324Asp)	KLHL20 (G324D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723007	NM_014458.4(KLHL20):c.1756G>A (p.Gly586Arg)	KLHL20 (G586R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722859	NM_014458.4(KLHL20):c.1355G>A (p.Gly452Asp)	KLHL20 (G452D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1527415	GRCh37/hg19 1q25.1(chr1:173750496-174538509)	DARS2, GAS5 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527393	GRCh37/hg19 1q24.3-25.1(chr1:171881608-175899893)	ANKRD45, C1orf105 +26 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1409896	NC_000001.10:g.(?_171605065)_(173962123_?)dup	ANKRD45, C1orf105 +22 more	Duplication	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1367461	NC_000001.10:g.(?_171605065)_(173962123_?)del	GAS5, KLHL20 +22 more	Deletion	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 1321897	NC_000001.11:g.172987296_174843232del	ANKRD45, SNORD80 +84 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321890	NC_000001.11:g.173686375_176083118del	LOC129388640, LOC129931948 +88 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321886	NC_000001.11:g.173501975_175305010del	RABGAP1L-DT, SNORD78 +79 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not provided	GPathogenic
Select item 869211	NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg)	KLHL20 (G357R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +2 more	GConflicting classifications of pathogenicity
Select item 814141	GRCh37/hg19 1q25.1(chr1:173705375-173961992)x3	CENPL, DARS2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 635908	Single allele	GAS5, RC3H1 +8 more	Deletion	Growth abnormality	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 558766	Single allele	ANKRD45, ATP1B1 +51 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 394362	GRCh37/hg19 1q25.1(chr1:173685197-173807287)x1	CENPL, DARS2 +1 more	Copy number loss	See cases	GUncertain significance
Select item 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic
Select item 221783	GRCh37/hg19 1q25.1(chr1:173697478-174010664)x3	CENPL, DARS2 +5 more	Copy number gain	Premature ovarian failure	GUncertain significance
Select item 161677	NM_014458.4(KLHL20):c.257del (p.Leu86fs)	KLHL20 (L86fs)	Deletion (frameshift variant)	Malignant tumor of prostate	GUncertain significance
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932075, LOC129932076 +560 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 60