"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "KLHL7"[gen - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2499037	NM_001031710.3(KLHL7):c.843A>C (p.Val281=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 804273	NM_001031710.3(KLHL7):c.1051C>T (p.Arg351Ter)	KLHL7 (R351* +1 more)	Single nucleotide variant (nonsense +1 more)	PERCHING syndrome +2 more	GPathogenic
Select item 2657348	NM_001031710.3(KLHL7):c.1052G>A (p.Arg351Gln)	KLHL7 (R303Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1701519	NM_001031710.3(KLHL7):c.1107G>A (p.Pro369=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657349	NM_001031710.3(KLHL7):c.1191G>A (p.Leu397=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 167216	NM_001031710.3(KLHL7):c.1440A>G (p.Lys480=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1648928	NM_001031710.3(KLHL7):c.1503C>T (p.Tyr501=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1110873	NM_001031710.3(KLHL7):c.1584T>C (p.Ser528=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1616894	NM_001031710.3(KLHL7):c.1638C>T (p.Leu546=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 908274	NM_001031710.3(KLHL7):c.*24T>C	KLHL7	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity