Related gene-specific medical variations for Gene (Select 57626) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3115465	NM_020866.3(KLHL1):c.245C>G (p.Pro82Arg)	ATXN8OS, KLHL1 (P82R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115464	NM_020866.3(KLHL1):c.244C>T (p.Pro82Ser)	ATXN8OS, KLHL1 (P82S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115463	NM_020866.3(KLHL1):c.238T>C (p.Ser80Pro)	ATXN8OS, KLHL1 (S80P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115459	NM_020866.3(KLHL1):c.155G>A (p.Ser52Asn)	ATXN8OS, KLHL1 (S52N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059673	NM_020866.3(KLHL1):c.234A>G (p.Ser78=)	ATXN8OS, KLHL1	Single nucleotide variant (synonymous variant +1 more)	KLHL1-related disorder	GBenign
Select item 3052204	NM_020866.3(KLHL1):c.91G>T (p.Gly31Cys)	ATXN8OS, KLHL1 (G31C)	Single nucleotide variant (missense variant +1 more)	KLHL1-related disorder	GLikely benign
Select item 3039726	NM_020866.3(KLHL1):c.87C>G (p.Thr29=)	ATXN8OS, KLHL1	Single nucleotide variant (synonymous variant +1 more)	KLHL1-related disorder	GLikely benign
Select item 3039641	NM_020866.3(KLHL1):c.183G>C (p.Glu61Asp)	ATXN8OS, KLHL1 (E61D)	Single nucleotide variant (missense variant +1 more)	KLHL1-related disorder	GBenign
Select item 2685471	GRCh37/hg19 13q21.33(chr13:70128311-70516906)x1	KLHL1	Copy number loss	not provided	GUncertain significance
Select item 2622259	NM_020866.3(KLHL1):c.86C>T (p.Thr29Ile)	ATXN8OS, KLHL1 (T29I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569682	NM_020866.3(KLHL1):c.88G>A (p.Gly30Ser)	ATXN8OS, KLHL1 (G30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367633	NM_020866.3(KLHL1):c.11C>G (p.Ser4Cys)	ATXN8OS, KLHL1 (S4C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325907	NM_020866.3(KLHL1):c.235T>G (p.Ser79Ala)	ATXN8OS, KLHL1 (S79A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320535	NM_020866.3(KLHL1):c.95C>T (p.Pro32Leu)	ATXN8OS, KLHL1 (P32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340563	GRCh37/hg19 13q21.33(chr13:70391359-70494595)x1	KLHL1	Copy number loss	not provided	GUncertain significance
Select item 1176326	NM_020866.3(KLHL1):c.99G>A (p.Ala33=)	ATXN8OS, KLHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 815597	GRCh37/hg19 13q21.33(chr13:70128310-70318441)x1	KLHL1	Copy number loss	not provided	GUncertain significance
Select item 157282	NM_001286725.1(KLHL1):c.498-42937_498-30292del	KLHL1	Deletion	Normal pregnancy	Gnot provided