ClinVar for MedGen (Select 863639) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1510116	NM_001136191.3(KANK2):c.1138C>T (p.Arg380Cys)	KANK2 (R380C)	Single nucleotide variant (missense variant)	KANK2-related condition +3 more	GUncertain significance
Select item 1432926	NM_001136191.3(KANK2):c.1504G>A (p.Val502Met)	KANK2 (V502M +1 more)	Single nucleotide variant (missense variant)	Wooly hair-palmoplantar keratoderma syndrome +2 more	GUncertain significance
Select item 1394568	NM_001136191.3(KANK2):c.2543C>T (p.Ser848Leu)	KANK2 (S848L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1356217	NM_001136191.3(KANK2):c.1369C>T (p.Pro457Ser)	KANK2 (P457S)	Single nucleotide variant (missense variant)	Wooly hair-palmoplantar keratoderma syndrome +2 more	GUncertain significance
Select item 1317914	NM_001136191.3(KANK2):c.2502+15G>A	KANK2	Single nucleotide variant (intron variant)	Nephrotic syndrome 16 +2 more	GBenign/Likely benign
Select item 774524	NM_001136191.3(KANK2):c.10G>A (p.Val4Ile)	KANK2 (V4I)	Single nucleotide variant (missense variant)	KANK2-related condition +3 more	GLikely benign
Select item 715318	NM_001136191.3(KANK2):c.1038C>T (p.Ala346=)	KANK2	Single nucleotide variant (synonymous variant)	Wooly hair-palmoplantar keratoderma syndrome +2 more	GBenign/Likely benign
Select item 158088	NM_001136191.3(KANK2):c.2009C>T (p.Ala670Val)	KANK2 (A670V +1 more)	Single nucleotide variant (missense variant)	Wooly hair-palmoplantar keratoderma syndrome	GPathogenic