"PreventionGenetics, part of Exact Sciences"[submitter] AND "KLHL21"[g - ClinVar - NCBI

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Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3035585	NM_014851.4(KLHL21):c.1779C>T (p.Pro593=)	KLHL21	Single nucleotide variant (3 prime UTR variant +1 more)	KLHL21-related disorder	GBenign
Select item 3043278	NM_014851.4(KLHL21):c.1242C>T (p.Asn414=)	KLHL21, LOC126805599	Single nucleotide variant (synonymous variant)	KLHL21-related disorder	GLikely benign
Select item 3056491	NM_014851.4(KLHL21):c.1097C>T (p.Ala366Val)	KLHL21, LOC126805599 (A366V)	Single nucleotide variant (missense variant)	KLHL21-related disorder	GLikely benign
Select item 3034671	NM_014851.4(KLHL21):c.897C>T (p.Asp299=)	KLHL21, LOC129929253	Single nucleotide variant (synonymous variant)	KLHL21-related disorder	GBenign
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 3044357	NM_014851.4(KLHL21):c.363G>A (p.Val121=)	KLHL21	Single nucleotide variant (synonymous variant)	KLHL21-related disorder	GLikely benign
Select item 3041121	NM_014851.4(KLHL21):c.123G>A (p.Ala41=)	KLHL21	Single nucleotide variant (synonymous variant)	KLHL21-related disorder	GLikely benign
Select item 3048947	NM_014851.4(KLHL21):c.82C>T (p.Leu28=)	KLHL21	Single nucleotide variant (synonymous variant)	KLHL21-related disorder	GLikely benign
Select item 3048912	NM_014851.4(KLHL21):c.81G>A (p.Gln27=)	KLHL21	Single nucleotide variant (synonymous variant)	KLHL21-related disorder	GLikely benign