ClinVar for MedGen (Select 39125) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065212	NM_000383.4(AIRE):c.93_94insT (p.Leu32fs)	AIRE (L32fs)	Insertion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 3024087	NM_000383.4(AIRE):c.116C>T (p.Pro39Leu)	AIRE (P39L)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 3022143	NM_000383.4(AIRE):c.1095+19C>T	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 3021627	NM_000383.4(AIRE):c.133-16T>C	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 3020966	NM_000383.4(AIRE):c.133-20C>T	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 3019738	NM_000383.4(AIRE):c.1279-12T>G	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 3019666	NM_000383.4(AIRE):c.713A>C (p.Asp238Ala)	AIRE (D238A)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 3016461	NM_000383.4(AIRE):c.238G>A (p.Val80Met)	AIRE (V80M)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 3015820	NM_000383.4(AIRE):c.1503+16G>T	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 3015633	NM_000383.4(AIRE):c.133-15G>A	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 3014944	NM_000383.4(AIRE):c.1595C>T (p.Ala532Val)	AIRE (A532V)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 3013690	NM_000383.4(AIRE):c.186C>T (p.Leu62=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 3013104	NM_000383.4(AIRE):c.132+15C>A	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 3012646	NM_000383.4(AIRE):c.538+14A>C	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 3011010	NM_000383.4(AIRE):c.1503+11C>T	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 3010969	NM_000383.4(AIRE):c.1447C>G (p.Pro483Ala)	AIRE (P483A)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 3004812	NM_000383.4(AIRE):c.798+19C>G	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 3003679	NM_000383.4(AIRE):c.867C>T (p.Pro289=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2999305	NM_000383.4(AIRE):c.1066del (p.Arg356fs)	AIRE (R356fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 2995935	NM_000383.4(AIRE):c.879+17C>T	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2995556	NM_000383.4(AIRE):c.303C>T (p.Pro101=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2994697	NM_000383.4(AIRE):c.1242G>A (p.Leu414=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2989472	NM_000383.4(AIRE):c.709G>T (p.Glu237Ter)	AIRE (E237*)	Single nucleotide variant (nonsense)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 2986765	NM_000383.4(AIRE):c.310G>A (p.Val104Met)	AIRE (V104M)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2983338	NM_000383.4(AIRE):c.307+10G>T	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2978593	NM_000383.4(AIRE):c.1335G>C (p.Arg445=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2978277	NM_000383.4(AIRE):c.672C>T (p.Ile224=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2978024	NM_000383.4(AIRE):c.879+8C>A	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2978023	NM_000383.4(AIRE):c.879+7_879+8insA	AIRE	Insertion (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2977812	NM_000383.4(AIRE):c.1279-4A>G	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2976238	NM_000383.4(AIRE):c.996-1G>A	AIRE	Single nucleotide variant (splice acceptor variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 2976194	NM_000383.4(AIRE):c.880-11G>A	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2976099	NM_000383.4(AIRE):c.653-20C>T	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2975035	NM_000383.4(AIRE):c.652+18G>A	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2974150	NM_000383.4(AIRE):c.312G>A (p.Val104=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2973206	NM_000383.4(AIRE):c.1497T>C (p.Pro499=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2973121	NM_000383.4(AIRE):c.1299T>G (p.Arg433=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2963839	NM_000383.4(AIRE):c.995+12C>A	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2962930	NM_000383.4(AIRE):c.1278+13T>C	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2962672	NM_000383.4(AIRE):c.1045C>T (p.Gln349Ter)	AIRE (Q349*)	Single nucleotide variant (nonsense)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 2961294	NM_000383.4(AIRE):c.652+12G>A	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2959525	NM_000383.4(AIRE):c.72C>T (p.Ser24=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2957432	NM_000383.4(AIRE):c.326C>T (p.Pro109Leu)	AIRE (P109L)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2955548	NM_000383.4(AIRE):c.798dup (p.Gly267fs)	AIRE (G267fs)	Duplication (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 2954781	NM_000383.4(AIRE):c.121G>A (p.Asp41Asn)	AIRE (D41N)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2920074	NM_000383.4(AIRE):c.1096-20T>C	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2919249	NM_000383.4(AIRE):c.653-13C>T	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2918251	NM_000383.4(AIRE):c.539-15T>C	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2918185	NM_000383.4(AIRE):c.799-16C>T	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2917872	NM_000383.4(AIRE):c.133-4G>A	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2916068	NM_000383.4(AIRE):c.1503+9C>A	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2915592	NM_000383.4(AIRE):c.1175T>C (p.Leu392Pro)	AIRE (L392P)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2914233	NM_000383.4(AIRE):c.1558C>T (p.Leu520=)	AIRE, LOC130066813	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2913919	NM_000383.4(AIRE):c.865C>A (p.Pro289Thr)	AIRE (P289T)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GUncertain significance
Select item 2912523	NM_000383.4(AIRE):c.996-15T>C	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2910707	NM_000383.4(AIRE):c.653-12A>G	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2909198	NM_000383.4(AIRE):c.539-6T>G	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2909071	NM_000383.4(AIRE):c.539-14G>A	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2907225	NM_000383.4(AIRE):c.880-20G>A	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2904246	NM_000383.4(AIRE):c.1401-8T>C	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2902911	NM_000383.4(AIRE):c.266G>T (p.Arg89Leu)	AIRE (R89L)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2901902	NM_000383.4(AIRE):c.307+11G>A	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2897140	NM_000383.4(AIRE):c.879+14C>T	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2896664	NM_000383.4(AIRE):c.1096-14C>T	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2895506	NM_000383.4(AIRE):c.880-19C>A	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2894157	NM_000383.4(AIRE):c.653-15G>T	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2893396	NM_000383.4(AIRE):c.1400+11G>A	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2889917	NM_000383.4(AIRE):c.378C>T (p.Pro126=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2889265	NM_000383.4(AIRE):c.1566+6G>A	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2888958	NM_000383.4(AIRE):c.308-14_308-9dup	AIRE	Duplication (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2886891	NM_000383.4(AIRE):c.879+20G>A	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2886750	NM_000383.4(AIRE):c.1504-18C>T	AIRE, LOC130066813	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2886283	NM_000383.4(AIRE):c.9G>A (p.Thr3=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2885621	NM_000383.4(AIRE):c.798+14C>T	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2884727	NM_000383.4(AIRE):c.1278+16G>A	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2884209	NM_000383.4(AIRE):c.876C>T (p.His292=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2880835	NM_000383.4(AIRE):c.798+8C>T	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2878968	NM_000383.4(AIRE):c.1404G>T (p.Thr468=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2877707	NM_000383.4(AIRE):c.132+22del	AIRE	Deletion (intron variant)	Polyglandular autoimmune syndrome, type 1	GBenign
Select item 2874080	NM_000383.4(AIRE):c.1089G>T (p.Glu363Asp)	AIRE (E363D)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2864222	NM_000383.4(AIRE):c.262G>T (p.Glu88Ter)	AIRE (E88*)	Single nucleotide variant (nonsense)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 2863912	NM_000383.4(AIRE):c.933T>A (p.Cys311Ter)	AIRE (C311*)	Single nucleotide variant (nonsense)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 2861552	NM_000383.4(AIRE):c.995+1G>A	AIRE	Single nucleotide variant (splice donor variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 2859132	NM_000383.4(AIRE):c.1279-5C>A	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2858821	NM_000383.4(AIRE):c.283C>T (p.Pro95Ser)	AIRE (P95S)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2857332	NM_000383.4(AIRE):c.1001C>A (p.Thr334Asn)	AIRE (T334N)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2855836	NM_000383.4(AIRE):c.657C>A (p.Gly219=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2855325	NM_000383.4(AIRE):c.852C>T (p.Ala284=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2854213	NM_000383.4(AIRE):c.27G>T (p.Arg9=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2852982	NM_000383.4(AIRE):c.1401-19C>A	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2851533	NM_000383.4(AIRE):c.867C>G (p.Pro289=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2851230	NM_000383.4(AIRE):c.308-6C>T	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2850991	NM_000383.4(AIRE):c.879+15C>T	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2849400	NM_000383.4(AIRE):c.1394G>C (p.Arg465Pro)	AIRE (R465P)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2848163	NM_000383.4(AIRE):c.1581C>A (p.Gly527=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2846231	NM_000383.4(AIRE):c.996-20_996-17del	AIRE	Deletion (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2845933	NM_000383.4(AIRE):c.1278+10G>C	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2845448	NM_000383.4(AIRE):c.1310G>A (p.Cys437Tyr)	AIRE (C437Y)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2843839	NM_000383.4(AIRE):c.999G>A (p.Gly333=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2840910	NM_000383.4(AIRE):c.1400+15T>A	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign

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