"Ambry Genetics"[submitter] AND "KLHL7"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 985678	NM_001031710.3(KLHL7):c.110T>C (p.Met37Thr)	KLHL7 (M37T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271433	NM_001031710.3(KLHL7):c.162G>C (p.Lys54Asn)	KLHL7 (K6N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 985358	NM_001031710.3(KLHL7):c.175C>T (p.Arg59Cys)	KLHL7 (R11C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 911034	NM_001031710.3(KLHL7):c.416A>G (p.Glu139Gly)	KLHL7 (E91G +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 816804	NM_001031710.3(KLHL7):c.565C>T (p.Arg189Ter)	KLHL7 (R141* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 813187	NM_001031710.3(KLHL7):c.598_601del (p.Leu199_Thr200insTer)	KLHL7	Deletion (nonsense +1 more)	Retinitis pigmentosa +2 more	GPathogenic/Likely pathogenic
Select item 2248752	NM_001031710.3(KLHL7):c.1165G>A (p.Gly389Ser)	KLHL7 (G341S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242678	NM_001031710.3(KLHL7):c.1450T>C (p.Phe484Leu)	KLHL7 (F436L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2177410	NM_001031710.3(KLHL7):c.1472G>T (p.Gly491Val)	KLHL7 (G443V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2554835	NM_001031710.3(KLHL7):c.1531G>A (p.Val511Ile)	KLHL7 (V463I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance