"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CASKIN1"[g - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2646052	NM_020764.4(CASKIN1):c.3495G>A (p.Pro1165=)	CASKIN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 807957	NM_020764.4(CASKIN1):c.2096G>A (p.Arg699Gln)	CASKIN1 (R699Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2646053	NM_020764.4(CASKIN1):c.1752C>T (p.Ile584=)	CASKIN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 807958	NM_020764.4(CASKIN1):c.1621C>T (p.His541Tyr)	CASKIN1 (H541Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646054	NM_020764.4(CASKIN1):c.618-5G>A	CASKIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2646055	NM_020764.4(CASKIN1):c.266C>T (p.Ala89Val)	CASKIN1 (A89V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar