"Ambry Genetics"[submitter] AND "ITFG1"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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
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 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 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 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 3286648	NM_030790.5(ITFG1):c.1384G>A (p.Val462Met)	ITFG1 (V462M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558136	NM_030790.5(ITFG1):c.1367A>T (p.Lys456Met)	ITFG1 (K343M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111096	NM_030790.5(ITFG1):c.1133G>T (p.Arg378Leu)	ITFG1 (R378L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111095	NM_030790.5(ITFG1):c.1133G>A (p.Arg378His)	ITFG1 (R378H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3111094	NM_030790.5(ITFG1):c.1132C>A (p.Arg378Ser)	ITFG1 (R265S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313689	NM_030790.5(ITFG1):c.1132C>T (p.Arg378Cys)	ITFG1 (R378C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248067	NM_030790.5(ITFG1):c.1130C>T (p.Ala377Val)	ITFG1 (A264V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326208	NM_030790.5(ITFG1):c.1109A>G (p.Asn370Ser)	ITFG1 (N257S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462689	NM_030790.5(ITFG1):c.1050A>G (p.Ile350Met)	ITFG1 (I237M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307135	NM_030790.5(ITFG1):c.1028G>A (p.Gly343Asp)	ITFG1 (G343D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393490	NM_030790.5(ITFG1):c.959T>C (p.Val320Ala)	ITFG1 (V320A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612032	NM_030790.5(ITFG1):c.931G>A (p.Gly311Ser)	ITFG1 (G198S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111106	NM_030790.5(ITFG1):c.929A>G (p.Lys310Arg)	ITFG1 (K197R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291689	NM_030790.5(ITFG1):c.908T>C (p.Val303Ala)	ITFG1 (V303A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491123	NM_030790.5(ITFG1):c.891G>A (p.Met297Ile)	ITFG1 (M184I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286649	NM_030790.5(ITFG1):c.889A>G (p.Met297Val)	ITFG1 (M297V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212853	NM_030790.5(ITFG1):c.877G>C (p.Val293Leu)	ITFG1 (V180L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111105	NM_030790.5(ITFG1):c.767T>C (p.Met256Thr)	ITFG1 (M256T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111104	NM_030790.5(ITFG1):c.739A>C (p.Ser247Arg)	ITFG1 (S134R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111103	NM_030790.5(ITFG1):c.734C>G (p.Ser245Cys)	ITFG1 (S245C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204374	NM_030790.5(ITFG1):c.625T>C (p.Phe209Leu)	ITFG1 (F209L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111101	NM_030790.5(ITFG1):c.574C>A (p.His192Asn)	ITFG1 (H192N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371332	NM_030790.5(ITFG1):c.440T>A (p.Met147Lys)	ITFG1 (M147K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111100	NM_030790.5(ITFG1):c.417T>G (p.Asn139Lys)	ITFG1 (N139K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111099	NM_030790.5(ITFG1):c.292G>A (p.Ala98Thr)	ITFG1 (A98T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2311904	NM_030790.5(ITFG1):c.193T>C (p.Phe65Leu)	ITFG1 (F65L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282107	NM_030790.5(ITFG1):c.193T>G (p.Phe65Val)	ITFG1 (F65V)	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 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 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 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 2621811	NM_030790.5(ITFG1):c.8C>T (p.Ala3Val)	ITFG1, LOC130058947 (A3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 40