KLHL10[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 3202501	NM_052935.5(NT5C3B):c.82C>G (p.Leu28Val)	KLHL10, NT5C3B (L28V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1263658	NM_001329595.1(KLHL10):c.-99T>C	KLHL10	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1238553	NM_001329595.1(KLHL10):c.-76G>A	KLHL10	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3024928	NM_152467.5(KLHL10):c.16G>A (p.Ala6Thr)	KLHL10 (A6T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2363241	NM_152467.5(KLHL10):c.20C>T (p.Ala7Val)	KLHL10 (A7V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288886	NM_152467.5(KLHL10):c.22G>A (p.Ala8Thr)	KLHL10 (A8T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534219	NM_152467.5(KLHL10):c.73G>A (p.Ala25Thr)	KLHL10 (A25T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3288885	NM_152467.5(KLHL10):c.117C>T (p.Cys39=)	KLHL10	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1252409	NM_152467.5(KLHL10):c.195-219C>A	KLHL10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178995	NM_152467.5(KLHL10):c.195-30C>T	KLHL10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2222932	NM_152467.5(KLHL10):c.223A>G (p.Thr75Ala)	KLHL10 (T75A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 684736	NM_152467.5(KLHL10):c.242A>T (p.Asn81Ile)	KLHL10 (N81I)	Single nucleotide variant (missense variant +1 more)	Non-obstructive azoospermia	GUncertain significance
Select item 1249063	NM_152467.5(KLHL10):c.261C>T (p.Pro87=)	KLHL10	Single nucleotide variant (synonymous variant +1 more)	Spermatogenic failure 11 +1 more	GBenign
Select item 2498704	NM_152467.5(KLHL10):c.304G>A (p.Val102Met)	KLHL10 (V102M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3288884	NM_152467.5(KLHL10):c.433T>C (p.Cys145Arg)	KLHL10 (C145R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512741	NM_152467.5(KLHL10):c.454T>C (p.Tyr152His)	KLHL10 (Y152H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487159	NM_152467.5(KLHL10):c.463G>A (p.Glu155Lys)	KLHL10 (E67K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487160	NM_152467.5(KLHL10):c.464A>G (p.Glu155Gly)	KLHL10 (E155G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548113	NM_152467.5(KLHL10):c.582G>C (p.Glu194Asp)	KLHL10 (E194D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 40008	NM_152467.5(KLHL10):c.647A>C (p.Gln216Pro)	KLHL10 (Q216P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1254282	NM_152467.5(KLHL10):c.685-259G>A	KLHL10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2269025	NM_152467.5(KLHL10):c.859C>T (p.Arg287Cys)	KLHL10 (R287C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 684737	NM_152467.5(KLHL10):c.887T>C (p.Ile296Thr)	KLHL10 (I208T +1 more)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia +2 more	GConflicting classifications of pathogenicity
Select item 1030262	NM_152467.5(KLHL10):c.923T>C (p.Ile308Thr)	KLHL10 (I308T +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 11	GUncertain significance
Select item 40009	NM_152467.5(KLHL10):c.937G>A (p.Ala313Thr)	KLHL10 (A313T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025421	NM_152467.5(KLHL10):c.949A>G (p.Arg317Gly)	KLHL10 (R229G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1284171	NM_152467.5(KLHL10):c.966T>C (p.Thr322=)	KLHL10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 996145	NM_152467.5(KLHL10):c.985C>T (p.Arg329Cys)	KLHL10 (R241C +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 11	GPathogenic
Select item 3053101	NM_152467.5(KLHL10):c.1009T>C (p.Leu337=)	KLHL10	Single nucleotide variant (synonymous variant)	KLHL10-related disorder	GLikely benign
Select item 2433163	NM_152467.5(KLHL10):c.1014A>C (p.Lys338Asn)	KLHL10 (K250N +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 11	GUncertain significance
Select item 3047292	NM_152467.5(KLHL10):c.1029C>A (p.Ile343=)	KLHL10	Single nucleotide variant (synonymous variant)	KLHL10-related disorder	GLikely benign
Select item 2604557	NM_152467.5(KLHL10):c.1159T>C (p.Phe387Leu)	KLHL10 (F299L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 40010	NM_152467.5(KLHL10):c.1302+123_1302+126del	KLHL10	Microsatellite (intron variant)	not provided	GBenign
Select item 1267345	NM_152467.5(KLHL10):c.1303-294T>C	KLHL10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255284	NM_152467.5(KLHL10):c.1303-214G>A	KLHL10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289496	NM_152467.5(KLHL10):c.1303-166G>A	KLHL10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280051	NM_152467.5(KLHL10):c.1303-154C>G	KLHL10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280108	NM_152467.5(KLHL10):c.1303-92C>T	KLHL10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2538252	NM_152467.5(KLHL10):c.1358A>G (p.Tyr453Cys)	KLHL10 (Y365C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521483	NM_152467.5(KLHL10):c.1451C>T (p.Ala484Val)	KLHL10 (A396V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1231817	NM_152467.5(KLHL10):c.1452+28C>A	KLHL10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250935	NM_152467.5(KLHL10):c.1452+245G>A	KLHL10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3115467	NM_152467.5(KLHL10):c.1592T>C (p.Val531Ala)	KLHL10 (V443A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647775	NM_152467.5(KLHL10):c.*5C>G	KLHL10	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3063506	GRCh37/hg19 17q21.2(chr17:39705863-40358580)x3	ACLY, CNP +25 more	Copy number gain	not specified	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 50