Related gene-specific medical variations for Gene (Select 81693) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3020154	NM_030943.4(AMN):c.1007-13C>T	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 3019847	NM_030943.4(AMN):c.1104C>G (p.Ala368=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 3014248	NM_030943.4(AMN):c.1007-38_1007-34dup	AMN, LOC130056554	Duplication (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 3013352	NM_030943.4(AMN):c.1011G>A (p.Glu337=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 3010252	NM_030943.4(AMN):c.1029G>A (p.Glu343=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 3002608	NM_030943.4(AMN):c.1065C>T (p.Gly355=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2995843	NM_030943.4(AMN):c.975C>T (p.Ala325=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	AMN-related condition +1 more	GLikely benign
Select item 2993664	NM_030943.4(AMN):c.1006+13G>A	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2985059	NM_030943.4(AMN):c.1117C>T (p.Leu373=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2982215	NM_030943.4(AMN):c.1007-30G>C	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2981059	NM_030943.4(AMN):c.249C>T (p.Ala83=)	AMN, LOC130056553	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2980677	NM_030943.4(AMN):c.249C>A (p.Ala83=)	AMN, LOC130056553	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2979301	NM_030943.4(AMN):c.1007-11C>T	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2976352	NM_030943.4(AMN):c.972G>A (p.Leu324=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2965154	NM_030943.4(AMN):c.208-17G>T	AMN, LOC130056553	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2920329	NM_030943.4(AMN):c.208-18dup	AMN, LOC130056553	Duplication (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2919326	NM_030943.4(AMN):c.1104C>T (p.Ala368=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2916606	NM_030943.4(AMN):c.1002G>A (p.Glu334=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2911634	NM_030943.4(AMN):c.235C>T (p.Leu79=)	AMN, LOC130056553	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2905167	NM_030943.4(AMN):c.1007-29G>C	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2905166	NM_030943.4(AMN):c.1007-30G>T	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2905165	NM_030943.4(AMN):c.1007-31_1007-30insCC	AMN, LOC130056554	Insertion (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2897106	NM_030943.4(AMN):c.1006+9G>T	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2894414	NM_030943.4(AMN):c.1006+18_1006+27del	AMN, LOC130056554	Deletion (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2890524	NM_030943.4(AMN):c.1007-14C>T	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2886072	NM_030943.4(AMN):c.1092C>T (p.Gly364=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2885447	NM_030943.4(AMN):c.1020C>T (p.Gly340=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2876586	NM_030943.4(AMN):c.1006+33G>T	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2868883	NM_030943.4(AMN):c.1007-33G>T	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2856485	NM_030943.4(AMN):c.1007-11C>G	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2855053	NM_030943.4(AMN):c.1006+9G>A	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2845924	NM_030943.4(AMN):c.1007-39C>T	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GBenign
Select item 2845635	NM_030943.4(AMN):c.1008C>A (p.Gly336=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2843736	NM_030943.4(AMN):c.1077T>A (p.Ala359=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2840557	NM_030943.4(AMN):c.957C>A (p.Gly319=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2839426	NM_030943.4(AMN):c.1114dup (p.Ala372fs)	AMN, LOC130056554 (A372fs)	Duplication (frameshift variant)	Imerslund-Grasbeck syndrome	GPathogenic
Select item 2836302	NM_030943.4(AMN):c.1006+23_1006+36del	AMN, LOC130056554	Deletion (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2832079	NM_030943.4(AMN):c.219G>A (p.Leu73=)	AMN, LOC130056553	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2830795	NM_030943.4(AMN):c.1006+28G>T	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2825041	NM_030943.4(AMN):c.987G>A (p.Leu329=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2822876	NM_030943.4(AMN):c.1007-16G>A	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2822415	NM_030943.4(AMN):c.967C>A (p.Arg323=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2821616	NM_030943.4(AMN):c.1068C>T (p.Ser356=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2807579	NM_030943.4(AMN):c.1039C>A (p.Arg347=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2806488	NM_030943.4(AMN):c.1006+14C>T	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2804736	NM_030943.4(AMN):c.1006+33G>A	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2802203	NM_030943.4(AMN):c.945G>T (p.Gly315=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2798214	NM_030943.4(AMN):c.954A>C (p.Thr318=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2797345	NM_030943.4(AMN):c.1006+12C>G	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2794801	NM_030943.4(AMN):c.1108C>T (p.Leu370=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2793865	NM_030943.4(AMN):c.240T>C (p.Ala80=)	AMN, LOC130056553	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2778839	NM_030943.4(AMN):c.1006+27C>T	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2757341	NM_030943.4(AMN):c.208-20T>C	AMN, LOC130056553	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2742702	NM_030943.4(AMN):c.1007-9C>T	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2733077	NM_030943.4(AMN):c.954A>G (p.Thr318=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2731896	NM_030943.4(AMN):c.1007-32C>T	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2728278	NM_030943.4(AMN):c.1098G>A (p.Ala366=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2728216	NM_030943.4(AMN):c.1006+36_1007-34dup	LOC130056554, AMN	Duplication (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2723175	NM_030943.4(AMN):c.208-14C>T	AMN, LOC130056553	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2720126	NM_030943.4(AMN):c.990G>A (p.Ala330=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2714969	NM_030943.4(AMN):c.264A>G (p.Ser88=)	AMN, LOC130056553	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2711802	NM_030943.4(AMN):c.1014C>A (p.Ala338=)	LOC130056554, AMN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2711734	NM_030943.4(AMN):c.213G>A (p.Leu71=)	AMN, LOC130056553	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2705150	NM_030943.4(AMN):c.1089C>T (p.Gly363=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2702738	NM_030943.4(AMN):c.968_975del (p.Arg323fs)	AMN, LOC130056554 (R323fs)	Deletion (frameshift variant)	Imerslund-Grasbeck syndrome	GPathogenic
Select item 2699459	NM_030943.4(AMN):c.1007-7G>A	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2696852	NM_030943.4(AMN):c.258C>T (p.Gly86=)	AMN, LOC130056553	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2694518	NM_030943.4(AMN):c.1007-31G>C	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2694517	NM_030943.4(AMN):c.1007-34del	AMN, LOC130056554	Deletion (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
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 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 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 2184497	NM_030943.4(AMN):c.1006+8C>A	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2184065	NM_030943.4(AMN):c.246A>G (p.Gly82=)	AMN, LOC130056553	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2177891	NM_030943.4(AMN):c.1007-15G>A	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2165197	NM_030943.4(AMN):c.967C>T (p.Arg323Trp)	AMN, LOC130056554 (R323W)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome	GUncertain significance
Select item 2161611	NM_030943.4(AMN):c.1006+12_1006+35dup	AMN, LOC130056554	Duplication (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2153550	NM_030943.4(AMN):c.268G>A (p.Val90Met)	AMN, LOC130056553 (V90M)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome	GUncertain significance
Select item 2129397	NM_030943.4(AMN):c.939_940delinsAT (p.Asn314Tyr)	AMN, LOC130056554 (N314Y)	Indel (missense variant)	Imerslund-Grasbeck syndrome	GUncertain significance
Select item 2109543	NM_030943.4(AMN):c.1006+6C>T	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GUncertain significance
Select item 2109361	NM_030943.4(AMN):c.998C>G (p.Ala333Gly)	AMN, LOC130056554 (A333G)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome	GUncertain significance
Select item 2074228	NM_030943.4(AMN):c.1007-4G>A	LOC130056554, AMN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 1975759	NM_030943.4(AMN):c.208-15C>G	AMN, LOC130056553	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 1957879	NM_030943.4(AMN):c.250G>A (p.Gly84Arg)	AMN, LOC130056553 (G84R)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome	GUncertain significance
Select item 1879782	NM_030943.4(AMN):c.493dup (p.Ser165fs)	AMN (S165fs)	Duplication (frameshift variant)	Imerslund-Grasbeck syndrome type 2	GPathogenic
Select item 1639284	NM_030943.4(AMN):c.208-16C>T	AMN, LOC130056553	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GBenign
Select item 1534197	NM_030943.4(AMN):c.1017C>A (p.Leu339=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 1420505	NM_030943.4(AMN):c.1006G>A (p.Gly336Ser)	AMN, LOC130056554 (G336S)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GUncertain significance
Select item 1400685	NM_030943.4(AMN):c.1115_1123dup (p.Ala372_Leu374dup)	AMN, LOC130056554	Duplication (inframe_insertion)	Imerslund-Grasbeck syndrome type 2 +1 more	GUncertain significance
Select item 1383141	NM_030943.4(AMN):c.1007-3C>T	AMN, LOC130056554	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GUncertain significance
Select item 1378412	NM_030943.4(AMN):c.948del (p.Glu317fs)	AMN, LOC130056554 (E317fs)	Deletion (frameshift variant)	Imerslund-Grasbeck syndrome	GUncertain significance
Select item 1374284	NM_030943.4(AMN):c.1056C>A (p.His352Gln)	AMN, LOC130056554 (H352Q)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GUncertain significance
Select item 1323130	NM_030943.4(AMN):c.297_299delinsAG (p.Glu100fs)	AMN (E100fs)	Indel (frameshift variant)	Imerslund-Grasbeck syndrome type 2	GPathogenic
Select item 1209347	NM_030943.4(AMN):c.43+286T>C	AMN, LOC130056552	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1152542	NM_030943.4(AMN):c.969G>A (p.Arg323=)	AMN, LOC130056554	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome type 2 +1 more	GLikely benign
Select item 942283	NM_030943.4(AMN):c.1036A>T (p.Met346Leu)	AMN, LOC130056554 (M346L)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome	GUncertain significance
Select item 873124	NM_030943.4(AMN):c.1006+11_1008del	AMN, LOC130056554	Deletion (splice acceptor variant)	Imerslund-Grasbeck syndrome type 2	GPathogenic
Select item 873123	NM_030943.4(AMN):c.1041_1042delinsCTC (p.Glu348fs)	AMN, LOC130056554 (E348fs)	Indel (frameshift variant)	Imerslund-Grasbeck syndrome type 2	GPathogenic
Select item 856744	NM_030943.4(AMN):c.1064G>A (p.Gly355Asp)	AMN, LOC130056554 (G355D)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome	GUncertain significance

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