Related gene-specific medical variations for Gene (Select 883) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3117205	NM_004059.5(KYAT1):c.1045A>G (p.Arg349Gly)	KYAT1, KYAT1-SPOUT1 (R383G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402429	NM_004059.5(KYAT1):c.515C>G (p.Thr172Arg)	KYAT1, KYAT1-SPOUT1 (T122R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358179	NM_004059.5(KYAT1):c.1138C>T (p.Pro380Ser)	KYAT1, KYAT1-SPOUT1 (P322S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254305	NM_004059.5(KYAT1):c.1180G>A (p.Asp394Asn)	KYAT1, KYAT1-SPOUT1 (D344N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243659	NM_004059.5(KYAT1):c.551A>G (p.Asn184Ser)	KYAT1, KYAT1-SPOUT1 (N134S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243658	NM_004059.5(KYAT1):c.242G>C (p.Gly81Ala)	KYAT1, KYAT1-SPOUT1 (G174A +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2235934	NM_004059.5(KYAT1):c.949C>T (p.Arg317Cys)	KYAT1, KYAT1-SPOUT1 (R259C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225521	NM_004059.5(KYAT1):c.505G>A (p.Gly169Ser)	KYAT1, KYAT1-SPOUT1 (G111S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2206665	NM_004059.5(KYAT1):c.1154A>T (p.Tyr385Phe)	KYAT1, KYAT1-SPOUT1 (Y419F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782286	NM_004059.5(KYAT1):c.-6-2041C>T	KYAT1, KYAT1-SPOUT1 (T26I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign