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

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2327501	NM_030943.4(AMN):c.7G>C (p.Val3Leu)	AMN (V3L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1402658	NM_030943.4(AMN):c.110G>A (p.Ser37Asn)	AMN (S37N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1950934	NM_030943.4(AMN):c.130G>A (p.Ala44Thr)	AMN (A44T)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +2 more	GUncertain significance
Select item 2052203	NM_030943.4(AMN):c.140C>T (p.Ala47Val)	AMN (A47V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2615813	NM_030943.4(AMN):c.163-6C>T	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2533009	NM_030943.4(AMN):c.292G>C (p.Ala98Pro)	AMN (A98P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116053	NM_030943.4(AMN):c.305C>A (p.Ala102Asp)	AMN (A102D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 532199	NM_030943.4(AMN):c.400C>G (p.Arg134Gly)	AMN (R134G)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 2 +2 more	GUncertain significance
Select item 2520982	NM_030943.4(AMN):c.412C>A (p.Arg138Ser)	AMN (R138S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116055	NM_030943.4(AMN):c.454G>C (p.Val152Leu)	AMN (V98L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293043	NM_030943.4(AMN):c.467C>G (p.Pro156Arg)	AMN (P156R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293032	NM_030943.4(AMN):c.491G>A (p.Arg164His)	AMN (R164H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1040561	NM_030943.4(AMN):c.500C>T (p.Ser167Leu)	AMN (S167L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2616215	NM_030943.4(AMN):c.509G>A (p.Gly170Asp)	AMN (G170D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293053	NM_030943.4(AMN):c.512G>C (p.Arg171Pro)	AMN (R171P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287047	NM_030943.4(AMN):c.526G>A (p.Asp176Asn)	AMN (D176N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2315089	NM_030943.4(AMN):c.671C>A (p.Ala224Glu)	AMN (A224E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546868	NM_030943.4(AMN):c.695G>T (p.Gly232Val)	AMN (G232V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397600	NM_030943.4(AMN):c.703C>G (p.Pro235Ala)	AMN (P235A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116062	NM_030943.4(AMN):c.712G>C (p.Ala238Pro)	AMN (A184P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116065	NM_030943.4(AMN):c.750T>G (p.Cys250Trp)	AMN (C250W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 967081	NM_030943.4(AMN):c.805C>T (p.Arg269Trp)	AMN (R269W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1052839	NM_030943.4(AMN):c.811C>T (p.Arg271Trp)	AMN (R271W)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 2 +2 more	GUncertain significance
Select item 3293064	NM_030943.4(AMN):c.839G>C (p.Gly280Ala)	AMN (G280A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496297	NM_030943.4(AMN):c.842T>C (p.Leu281Pro)	AMN (L281P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2042982	NM_030943.4(AMN):c.892T>C (p.Ser298Pro)	AMN (S298P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2331376	NM_030943.4(AMN):c.968G>T (p.Arg323Leu)	AMN, LOC130056554 (R323L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264407	NM_030943.4(AMN):c.968G>C (p.Arg323Pro)	AMN, LOC130056554 (R323P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341404	NM_030943.4(AMN):c.1019G>A (p.Gly340Asp)	AMN, LOC130056554 (G340D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1374284	NM_030943.4(AMN):c.1056C>A (p.His352Gln)	AMN, LOC130056554 (H352Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2395274	NM_030943.4(AMN):c.1099G>A (p.Ala367Thr)	AMN, LOC130056554 (A367T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116044	NM_030943.4(AMN):c.1210C>T (p.Leu404Phe)	AMN (L404F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218352	NM_030943.4(AMN):c.1234G>A (p.Asp412Asn)	AMN (D412N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594225	NM_030943.4(AMN):c.1240A>G (p.Thr414Ala)	AMN (T414A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1032915	NM_030943.4(AMN):c.1324G>A (p.Val442Ile)	AMN (V442I)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +3 more	GUncertain significance
Select item 1022286	NM_030943.4(AMN):c.1343G>A (p.Gly448Glu)	AMN (G448E)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +1 more	GConflicting classifications of pathogenicity

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Items: 36