"GeneDx"[submitter] AND "KLHL20"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	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 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	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 3252817	NM_014458.4(KLHL20):c.500C>T (p.Pro167Leu)	KLHL20 (P167L)	Single nucleotide variant (missense variant)	not provided	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 3343692	NM_014458.4(KLHL20):c.890C>T (p.Pro297Leu)	KLHL20 (P297L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723083	NM_014458.4(KLHL20):c.971G>A (p.Gly324Asp)	KLHL20 (G324D)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3343451	NM_014458.4(KLHL20):c.1211C>G (p.Thr404Arg)	KLHL20 (T404R)	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 3373121	NM_014458.4(KLHL20):c.1630_1634delinsGGTAT (p.Arg544_Ser545delinsGlyIle)	KLHL20	Indel (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 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic
Select item 3360948	NM_014458.4(KLHL20):c.1699T>G (p.Tyr567Asp)	KLHL20 (Y567D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359907	NM_014458.4(KLHL20):c.1547A>T (p.Asp516Val)	KLHL20 (D516V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance