Related gene-specific medical variations for Gene (Select 10207) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1809331	GRCh37/hg19 1p31.3(chr1:62253991-62598777)x1	PATJ	Copy number loss	not provided	GUncertain significance
Select item 1330902	NM_001350145.3(PATJ):c.4546G>T (p.Val1516Leu)	PATJ (V1516L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330683	NM_001350145.3(PATJ):c.5137G>A (p.Gly1713Arg)	PATJ (G1713R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 814087	GRCh37/hg19 1p31.3(chr1:62253990-62598778)x1	PATJ	Copy number loss	not provided	GUncertain significance

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