AMN[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	ABCD4, ABHD12B +3281 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3276 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC132090296, LOC132090297 +1422 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	LOC130056647, LOC130056648 +1203 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056481, LOC130056482 +1072 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056604, LOC130056605 +654 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR493, MIR494 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056480, LOC130056481 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	IGHV1-46, IGHV1-58 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	MIR6765, MIR8071-1 +441 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	ADSS1, AHNAK2 +416 more	Copy number loss	See cases	GPathogenic
Select item 57839	GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1	LOC105378183, LOC112163684 +164 more	Copy number loss	See cases	GPathogenic
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	ADSS1, AHNAK2 +397 more	Copy number loss	See cases	GPathogenic
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	LOC130056644, LOC130056645 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2429110	NC_000014.9:g.102573453_103575949del	AMN, BAG5 +87 more	Deletion	Mitochondrial complex 4 deficiency, nuclear type 17	GPathogenic
Select item 57840	GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1	ADSS1, AKT1 +177 more	Copy number loss	See cases	GPathogenic
Select item 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	ADSS1, AHNAK2 +367 more	Copy number loss	See cases	GPathogenic
Select item 540505	NC_000014.8:g.(?_103336519)_(103397037_?)dup	AMN, LOC126862065 +6 more	Duplication	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 532214	NC_000014.9:g.(?_102870182)_(102930700_?)del	LOC130056553, LOC130056554 +6 more	Deletion	Imerslund-Grasbeck syndrome	GPathogenic
Select item 649059	NC_000014.8:g.(?_103355877)_(103395332_?)dup	AMN, LOC130056550 +4 more	Duplication	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 1218887	NC_000014.9:g.102922417C>T	AMN	Single nucleotide variant	not provided	GLikely benign
Select item 1231371	NC_000014.9:g.102922443A>T	AMN	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1201350	NC_000014.9:g.102922458C>T	AMN	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1286303	NC_000014.9:g.102922602C>G	AMN	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1243763	NC_000014.9:g.102922615C>T	AMN	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1243841	NC_000014.9:g.102922662T>C	AMN	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1262486	NM_030943.4(AMN):c.-23G>C	AMN	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 56749	NM_030943.4(AMN):c.14del (p.Gly5fs)	AMN (G5fs)	Deletion (frameshift variant)	Imerslund-Grasbeck syndrome +1 more	GPathogenic
Select item 1639122	NM_030943.4(AMN):c.21C>T (p.Val7=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 1633325	NM_030943.4(AMN):c.21C>A (p.Val7=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2742934	NM_030943.4(AMN):c.24G>T (p.Leu8=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 3012147	NM_030943.4(AMN):c.34C>T (p.Gln12Ter)	AMN (Q12*)	Single nucleotide variant (nonsense)	Imerslund-Grasbeck syndrome	GPathogenic
Select item 873125	NM_030943.4(AMN):c.35del (p.Gln12fs)	AMN (Q12fs)	Deletion (frameshift variant)	Imerslund-Grasbeck syndrome type 2	GPathogenic
Select item 2129396	NM_030943.4(AMN):c.43G>T (p.Ala15Ser)	AMN (A15S)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome	GUncertain significance
Select item 56753	NM_030943.4(AMN):c.43+1G>T	AMN	Single nucleotide variant (splice donor variant)	Imerslund-Grasbeck syndrome	GLikely pathogenic
Select item 2892951	NM_030943.4(AMN):c.43+7C>T	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 1574805	NM_030943.4(AMN):c.43+8G>A	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2732687	NM_030943.4(AMN):c.43+9G>A	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2025462	NM_030943.4(AMN):c.43+10G>A	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2900670	NM_030943.4(AMN):c.43+11A>G	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2994668	NM_030943.4(AMN):c.43+15C>T	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2990320	NM_030943.4(AMN):c.43+16A>G	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2855808	NM_030943.4(AMN):c.43+17_43+37del	AMN	Deletion (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2810069	NM_030943.4(AMN):c.43+17C>G	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2763084	NM_030943.4(AMN):c.43+17C>T	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2846482	NM_030943.4(AMN):c.43+18C>T	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 1268789	NM_030943.4(AMN):c.43+146C>T	AMN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209347	NM_030943.4(AMN):c.43+286T>C	AMN, LOC130056552	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795181	NM_030943.4(AMN):c.44-20C>T	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2994217	NM_030943.4(AMN):c.44-15T>C	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 1471222	NM_030943.4(AMN):c.44-7_44-5del	AMN	Microsatellite (intron variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GUncertain significance
Select item 2717472	NM_030943.4(AMN):c.44-9C>G	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2780727	NM_030943.4(AMN):c.44-6C>T	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2892678	NM_030943.4(AMN):c.44-4C>T	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2733102	NM_030943.4(AMN):c.44-2A>T	AMN	Single nucleotide variant (splice acceptor variant)	Imerslund-Grasbeck syndrome	GLikely pathogenic
Select item 2971387	NM_030943.4(AMN):c.44-1G>A	AMN	Single nucleotide variant (splice acceptor variant)	Imerslund-Grasbeck syndrome	GLikely pathogenic
Select item 699594	NM_030943.4(AMN):c.45A>C (p.Ala15=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GLikely benign
Select item 3014131	NM_030943.4(AMN):c.46C>T (p.Leu16=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 1052801	NM_030943.4(AMN):c.56C>T (p.Ala19Val)	AMN (A19V)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome	GUncertain significance
Select item 2831212	NM_030943.4(AMN):c.58del (p.Val20fs)	AMN (V20fs)	Deletion (frameshift variant)	Imerslund-Grasbeck syndrome	GPathogenic
Select item 796850	NM_030943.4(AMN):c.57G>A (p.Ala19=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 695339	NM_030943.4(AMN):c.57G>T (p.Ala19=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2417939	NM_030943.4(AMN):c.62C>T (p.Ser21Phe)	AMN (S21F)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome	GUncertain significance
Select item 1165510	NM_030943.4(AMN):c.63C>T (p.Ser21=)	AMN	Single nucleotide variant (synonymous variant)	AMN-related disorder +2 more	GBenign/Likely benign
Select item 2862251	NM_030943.4(AMN):c.73del (p.Val25fs)	AMN (V25fs)	Deletion (frameshift variant)	Imerslund-Grasbeck syndrome	GPathogenic
Select item 2896512	NM_030943.4(AMN):c.78del (p.Asn27fs)	AMN (N27fs)	Deletion (frameshift variant)	Imerslund-Grasbeck syndrome	GPathogenic
Select item 2821382	NM_030943.4(AMN):c.75C>A (p.Val25=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2786868	NM_030943.4(AMN):c.75C>T (p.Val25=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2055504	NM_030943.4(AMN):c.81C>T (p.Asn27=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 699091	NM_030943.4(AMN):c.93C>T (p.Asp31=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +1 more	GBenign/Likely benign
Select item 2891559	NM_030943.4(AMN):c.96C>T (p.Val32=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2803123	NM_030943.4(AMN):c.105C>T (p.Asn35=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 1441367	NM_030943.4(AMN):c.108G>C (p.Trp36Cys)	AMN (W36C)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +1 more	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 4770	NM_030943.4(AMN):c.122C>T (p.Thr41Ile)	AMN (T41I)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome	GLikely pathogenic
Select item 727345	NM_030943.4(AMN):c.123C>G (p.Thr41=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2733052	NM_030943.4(AMN):c.126G>A (p.Pro42=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2893181	NM_030943.4(AMN):c.138_162+20del	AMN	Deletion (splice donor variant)	Imerslund-Grasbeck syndrome	GLikely pathogenic
Select item 3004779	NM_030943.4(AMN):c.129C>T (p.Cys43=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 1950934	NM_030943.4(AMN):c.130G>A (p.Ala44Thr)	AMN (A44T)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +1 more	GUncertain significance
Select item 2835160	NM_030943.4(AMN):c.135C>T (p.Gly45=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
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 2140986	NM_030943.4(AMN):c.141C>T (p.Ala47=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2127822	NM_030943.4(AMN):c.141C>G (p.Ala47=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 523537	NM_030943.4(AMN):c.149T>C (p.Phe50Ser)	AMN (F50S)	Single nucleotide variant (missense variant)	Cobalamin deficiency +2 more	GUncertain significance
Select item 2970574	NM_030943.4(AMN):c.153G>C (p.Pro51=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2808996	NM_030943.4(AMN):c.153G>T (p.Pro51=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2192494	NM_030943.4(AMN):c.153G>A (p.Pro51=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 3015842	NM_030943.4(AMN):c.156G>A (p.Ala52=)	AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2874884	NM_030943.4(AMN):c.162+8G>A	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2862983	NM_030943.4(AMN):c.162+12C>G	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2064401	NM_030943.4(AMN):c.162+12C>T	AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign

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