Related gene-specific medical variations for Gene (Select 81533) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286651	NM_030790.5(ITFG1):c.1657C>G (p.Arg553Gly)	ITFG1, ITFG1-AS1 (R553G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286650	NM_030790.5(ITFG1):c.1562G>A (p.Arg521His)	ITFG1, ITFG1-AS1 (R521H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3286647	NM_030790.5(ITFG1):c.37C>G (p.Leu13Val)	ITFG1, LOC130058947 (L13V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111102	NM_030790.5(ITFG1):c.67C>G (p.Leu23Val)	ITFG1, LOC130058947 (L23V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111098	NM_030790.5(ITFG1):c.1810G>T (p.Ala604Ser)	ITFG1, ITFG1-AS1 (A604S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3111097	NM_030790.5(ITFG1):c.1586G>A (p.Arg529Gln)	ITFG1, ITFG1-AS1 (R416Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621811	NM_030790.5(ITFG1):c.8C>T (p.Ala3Val)	ITFG1, LOC130058947 (A3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592031	NM_030790.5(ITFG1):c.1568C>A (p.Ser523Tyr)	ITFG1, ITFG1-AS1 (S523Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529936	NM_030790.5(ITFG1):c.22C>T (p.Pro8Ser)	ITFG1, LOC130058947 (P8S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380152	NM_030790.5(ITFG1):c.1726G>A (p.Gly576Ser)	ITFG1, ITFG1-AS1 (G576S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365193	NM_030790.5(ITFG1):c.34G>C (p.Ala12Pro)	ITFG1, LOC130058947 (A12P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297850	NM_030790.5(ITFG1):c.1583T>C (p.Ile528Thr)	ITFG1, ITFG1-AS1 (I415T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292257	NM_030790.5(ITFG1):c.1649A>G (p.Asn550Ser)	ITFG1, ITFG1-AS1 (N550S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance