LOC129929254[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 more	Copy number loss	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 57390	GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1	ACOT7, ACTRT2 +226 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 2547249	NM_014851.4(KLHL21):c.673C>T (p.Arg225Cys)	KLHL21, LOC129929254 (R225C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115546	NM_014851.4(KLHL21):c.655C>A (p.Gln219Lys)	KLHL21, LOC129929254 (Q219K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527712	NM_014851.4(KLHL21):c.653C>T (p.Pro218Leu)	KLHL21, LOC129929254 (P218L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115545	NM_014851.4(KLHL21):c.646C>G (p.His216Asp)	KLHL21, LOC129929254 (H216D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115544	NM_014851.4(KLHL21):c.620G>T (p.Arg207Leu)	KLHL21, LOC129929254 (R207L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041860	NM_014851.4(KLHL21):c.590C>T (p.Ala197Val)	KLHL21, LOC129929254 (A197V)	Single nucleotide variant (missense variant)	KLHL21-related disorder	GBenign
Select item 2491287	NM_014851.4(KLHL21):c.562G>A (p.Asp188Asn)	KLHL21, LOC129929254 (D188N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225911	NM_014851.4(KLHL21):c.557G>A (p.Arg186Gln)	KLHL21, LOC129929254 (R186Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115543	NM_014851.4(KLHL21):c.553C>A (p.Leu185Met)	KLHL21, LOC129929254 (L185M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 31