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

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2236149	NM_001144.6(AMFR):c.1846G>T (p.Gly616Cys)	AMFR (G616C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115539	NM_001144.6(AMFR):c.1817C>T (p.Ala606Val)	AMFR (A511V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481533	NM_001144.6(AMFR):c.1654G>A (p.Gly552Ser)	AMFR (G552S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2301442	NM_001144.6(AMFR):c.1606C>T (p.Arg536Cys)	AMFR (R441C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371564	NM_001144.6(AMFR):c.1516C>T (p.Arg506Trp)	AMFR (R538W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485278	NM_001144.6(AMFR):c.1390A>T (p.Ile464Phe)	AMFR (I369F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115512	NM_001144.6(AMFR):c.1345A>T (p.Ile449Phe)	AMFR (I354F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399009	NM_001144.6(AMFR):c.1345A>G (p.Ile449Val)	AMFR (I449V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456083	NM_001144.6(AMFR):c.1241G>A (p.Arg414His)	AMFR (R319H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115506	NM_001144.6(AMFR):c.1219G>C (p.Ala407Pro)	AMFR (A312P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115503	NM_001144.6(AMFR):c.1165C>T (p.Arg389Cys)	AMFR (R294C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115497	NM_001144.6(AMFR):c.1153G>A (p.Ala385Thr)	AMFR (A290T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559643	NM_001144.6(AMFR):c.1097G>A (p.Arg366His)	AMFR (R366H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264289	NM_001144.6(AMFR):c.1058A>C (p.Lys353Thr)	AMFR (K258T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115487	NM_001144.6(AMFR):c.1000C>A (p.Leu334Met)	AMFR (L334M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384517	NM_001144.6(AMFR):c.978T>G (p.Phe326Leu)	AMFR (F326L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115593	NM_001144.6(AMFR):c.940A>G (p.Asn314Asp)	AMFR (N314D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211998	NM_001144.6(AMFR):c.929G>A (p.Arg310His)	AMFR (R215H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115582	NM_001144.6(AMFR):c.919C>T (p.Arg307Cys)	AMFR (R212C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543779	NM_001144.6(AMFR):c.877G>A (p.Val293Ile)	AMFR (V293I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365559	NM_001144.6(AMFR):c.821T>C (p.Met274Thr)	AMFR (M179T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354843	NM_001144.6(AMFR):c.691G>T (p.Ala231Ser)	AMFR (A136S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292699	NM_001144.6(AMFR):c.623G>T (p.Gly208Val)	AMFR (G208V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537500	NM_001144.6(AMFR):c.616A>G (p.Ile206Val)	AMFR (I111V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2588201	NM_001144.6(AMFR):c.554G>A (p.Arg185Gln)	AMFR (R185Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115555	NM_001144.6(AMFR):c.534G>A (p.Thr178=)	AMFR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3292688	NM_001144.6(AMFR):c.503G>A (p.Arg168Gln)	AMFR (R168Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115551	NM_001144.6(AMFR):c.392T>A (p.Ile131Asn)	AMFR (I131N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510978	NM_001144.6(AMFR):c.212G>A (p.Arg71His)	AMFR, LOC130059041 (R71H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403667	NM_001144.6(AMFR):c.211C>T (p.Arg71Cys)	AMFR, LOC130059041 (R71C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292709	NM_001144.6(AMFR):c.202C>T (p.Pro68Ser)	AMFR, LOC130059041 (P68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292719	NM_001144.6(AMFR):c.188C>G (p.Pro63Arg)	AMFR, LOC130059041 (P63R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597213	NM_001144.6(AMFR):c.166G>A (p.Glu56Lys)	AMFR, LOC130059041 (E56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115565	NM_001144.6(AMFR):c.56G>T (p.Gly19Val)	AMFR, LOC130059041 (G19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 34