"KLHL7-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 742061	NM_001031710.3(KLHL7):c.804G>A (p.Arg268=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1042989	NM_001031710.3(KLHL7):c.881G>A (p.Arg294His)	KLHL7 (R294H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3030985	NM_001031710.3(KLHL7):c.990A>C (p.Ala330=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	KLHL7-related disorder	GLikely benign
Select item 1156554	NM_001031710.3(KLHL7):c.1650C>T (p.Thr550=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	KLHL7-related disorder +1 more	GLikely benign

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