Related gene-specific medical variations for Gene (Select 92106) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3432551	NM_015150.2(RFTN1):c.1234G>A (p.Val412Ile)	OXNAD1, RFTN1 (V412I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3432550	NM_015150.2(RFTN1):c.1259G>A (p.Ser420Asn)	OXNAD1, RFTN1 (S420N)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 3432548	NM_015150.2(RFTN1):c.1366A>G (p.Asn456Asp)	OXNAD1, RFTN1 (N456D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3432546	NM_015150.2(RFTN1):c.1630A>G (p.Ser544Gly)	OXNAD1, RFTN1 (S544G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3432545	NM_015150.2(RFTN1):c.1237G>A (p.Val413Ile)	OXNAD1, RFTN1 (V413I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3432539	NM_015150.2(RFTN1):c.1514C>T (p.Ser505Phe)	OXNAD1, RFTN1 (S505F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3432538	NM_015150.2(RFTN1):c.1187C>T (p.Ser396Leu)	OXNAD1, RFTN1 (S396L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313893	NM_015150.2(RFTN1):c.1724T>C (p.Val575Ala)	OXNAD1, RFTN1 (V575A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2653607	NM_015150.2(RFTN1):c.1233C>T (p.Pro411=)	OXNAD1, RFTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653606	NM_015150.2(RFTN1):c.1566T>C (p.Pro522=)	OXNAD1, RFTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2591202	NM_015150.2(RFTN1):c.1459A>G (p.Lys487Glu)	OXNAD1, RFTN1 (K487E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560093	NM_015150.2(RFTN1):c.1352G>A (p.Arg451Lys)	OXNAD1, RFTN1 (R451K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552992	NM_015150.2(RFTN1):c.1390G>A (p.Gly464Ser)	OXNAD1, RFTN1 (G464S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543432	NM_015150.2(RFTN1):c.1524G>A (p.Met508Ile)	OXNAD1, RFTN1 (M508I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459577	NM_015150.2(RFTN1):c.1435A>G (p.Lys479Glu)	OXNAD1, RFTN1 (K479E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397413	NM_015150.2(RFTN1):c.1721C>T (p.Thr574Met)	OXNAD1, RFTN1 (T574M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355897	NM_015150.2(RFTN1):c.1730A>G (p.Glu577Gly)	OXNAD1, RFTN1 (E577G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355896	NM_015150.2(RFTN1):c.1457C>A (p.Ser486Tyr)	OXNAD1, RFTN1 (S486Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353729	NM_138381.5(OXNAD1):c.184A>G (p.Ile62Val)	LOC129936290, OXNAD1 (I35V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2298528	NM_015150.2(RFTN1):c.1355A>G (p.Glu452Gly)	OXNAD1, RFTN1 (E452G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270630	NM_015150.2(RFTN1):c.1517A>G (p.Glu506Gly)	OXNAD1, RFTN1 (E506G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 21