Related gene-specific medical variations for Gene (Select 10877) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237406	NM_001201550.3(CFHR4):c.41C>A (p.Ser14Tyr)	CFHR4 (S14Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672285	NM_001201550.3(CFHR4):c.1599A>C (p.Lys533Asn)	CFHR4 (K286N +2 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1808389	GRCh37/hg19 1q31.3(chr1:196828725-196877037)x0	CFHR4	Copy number loss	not provided	GUncertain significance
Select item 1527492	GRCh37/hg19 1q31.3(chr1:196839570-196877037)	CFHR4	Copy number loss	not specified	GUncertain significance

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