326[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC130066574, LOC130066575 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC130066796, LOC130066797 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC130066513, LOC130066514 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC126653326, LOC126653327 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	LOC130066833, LOC130066834 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	CBR1-AS1, CBR3 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066700, LOC130066701 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066665, LOC130066666 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653316, LOC126653317 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	LOC130066758, LOC130066759 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066436, LOC130066437 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	KRTAP13-3, KRTAP13-4 +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, MIR6814 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC130066541, LOC130066542 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066593, LOC130066594 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066830, LOC130066831 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC129391220, LOC129391221 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LOC130066733, LOC130066734 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	AATBC, ABCG1 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	LOC130066879, LOC130066880 +568 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AGPAT3, AIRE +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	LOC130066848, LOC130066849 +482 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	LOC108254685, LOC108281139 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	AATBC, ABCG1 +416 more	Copy number loss	See cases	GPathogenic
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	LOC130066823, LOC130066824 +376 more	Copy number loss	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	AATBC, ABCG1 +340 more	Copy number loss	See cases	GPathogenic
Select item 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066810, LOC130066811 +334 more	Copy number loss	See cases	GPathogenic
Select item 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	LOC130066817, LOC130066818 +276 more	Copy number loss	See cases	GPathogenic
Select item 144193	GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1	AATBC, ADARB1 +268 more	Copy number loss	See cases	GPathogenic
Select item 545245	Single allele	AATBC, ADARB1 +245 more	Duplication	Autism	GLikely pathogenic
Select item 147166	GRCh38/hg38 21q22.3(chr21:44131144-44348695)x3	AIRE, CFAP410 +28 more	Copy number gain	See cases	GLikely benign
Select item 555984	NM_000383.3(AIRE):c.-653_-649dup	AIRE	Duplication	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 554053	NM_000383.3(AIRE):c.-656_-655insCCC	AIRE	Insertion	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 1287577	NC_000021.9:g.44285603G>C	AIRE	Single nucleotide variant	not provided	GBenign
Select item 1165016	NC_000021.9:g.44285777T>C	AIRE	Single nucleotide variant	not provided +1 more	GBenign
Select item 1283137	NM_000383.4(AIRE):c.-77C>A	AIRE	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1292092	NM_000383.4(AIRE):c.-41C>A	AIRE	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 556520	NM_000383.4(AIRE):c.-24_1del (p.Met1fs)	AIRE (M1fs)	Deletion (frameshift variant +1 more)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 954404	NM_000383.4(AIRE):c.-17_27del (p.Met1fs)	AIRE (M1fs)	Deletion (frameshift variant +1 more)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 458611	NC_000021.9:g.(?_44285987)_(44297747_?)del	AIRE, LOC130066813 +1 more	Deletion	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 989627	NM_000383.4(AIRE):c.-4C>A	AIRE	Single nucleotide variant (5 prime UTR variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 551136	NM_000383.4(AIRE):c.1A>G (p.Met1Val)	AIRE (M1V)	Single nucleotide variant (missense variant +1 more)	Inherited Immunodeficiency Diseases +1 more	GPathogenic/Likely pathogenic
Select item 3314	NM_000383.4(AIRE):c.1A>T (p.Met1Leu)	AIRE (M1L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 2138396	NM_000383.4(AIRE):c.2T>C (p.Met1Thr)	AIRE (M1T)	Single nucleotide variant (missense variant +1 more)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 1451244	NM_000383.4(AIRE):c.2T>G (p.Met1Arg)	AIRE (M1R)	Single nucleotide variant (missense variant +1 more)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 1322985	NM_000383.4(AIRE):c.2T>A (p.Met1Lys)	AIRE (M1K)	Single nucleotide variant (missense variant +1 more)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 2230237	NM_000383.4(AIRE):c.7A>C (p.Thr3Pro)	AIRE (T3P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1968263	NM_000383.4(AIRE):c.9G>C (p.Thr3=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 646730	NM_000383.4(AIRE):c.10G>A (p.Asp4Asn)	AIRE (D4N)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2251109	NM_000383.4(AIRE):c.11A>C (p.Asp4Ala)	AIRE (D4A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1385133	NM_000383.4(AIRE):c.11A>T (p.Asp4Val)	AIRE (D4V)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 1458570	NM_000383.4(AIRE):c.14_15del (p.Ala5fs)	AIRE (A5fs)	Microsatellite (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 1141810	NM_000383.4(AIRE):c.12C>T (p.Asp4=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2187127	NM_000383.4(AIRE):c.13G>A (p.Ala5Thr)	AIRE (A5T)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 1411056	NM_000383.4(AIRE):c.13_14delinsTT (p.Ala5Leu)	AIRE (A5L)	Indel (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2734848	NM_000383.4(AIRE):c.15G>T (p.Ala5=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 556137	NM_000383.4(AIRE):c.20_24del (p.Leu7fs)	AIRE (L7fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 708862	NM_000383.4(AIRE):c.18G>C (p.Ala6=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2580370	NM_000383.4(AIRE):c.20_115del (p.Leu7_Val38del)	AIRE	Deletion (inframe_deletion)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 636457	NM_000383.4(AIRE):c.21_43dup (p.Arg15delinsHisAlaGlyPheTer)	AIRE	Duplication (nonsense)	Polyglandular autoimmune syndrome, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2830432	NM_000383.4(AIRE):c.21A>C (p.Leu7=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 1079683	NM_000383.4(AIRE):c.21A>G (p.Leu7=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 552873	NM_000383.4(AIRE):c.22C>T (p.Arg8Cys)	AIRE (R8C)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2796176	NM_000383.4(AIRE):c.23G>A (p.Arg8His)	AIRE (R8H)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 2720774	NM_000383.4(AIRE):c.24C>G (p.Arg8=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 973615	NM_000383.4(AIRE):c.25C>T (p.Arg9Trp)	AIRE (R9W)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 372599	NM_000383.4(AIRE):c.26G>C (p.Arg9Pro)	AIRE (R9P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1627071	NM_000383.4(AIRE):c.30T>C (p.Leu10=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 429854	NM_000383.4(AIRE):c.34A>G (p.Arg12Gly)	AIRE (R12G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1415983	NM_000383.4(AIRE):c.36del (p.Arg12fs)	AIRE (R12fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 2808045	NM_000383.4(AIRE):c.41A>C (p.His14Pro)	AIRE (H14P)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 1140472	NM_000383.4(AIRE):c.42C>T (p.His14=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 1481156	NM_000383.4(AIRE):c.43C>G (p.Arg15Gly)	AIRE (R15G)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 68225	NM_000383.4(AIRE):c.43C>T (p.Arg15Cys)	AIRE (R15C)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GConflicting classifications of pathogenicity
Select item 1021824	NM_000383.4(AIRE):c.46_63dup (p.Thr16_Ala21dup)	AIRE	Duplication (inframe_insertion)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 992986	NM_000383.4(AIRE):c.44G>A (p.Arg15His)	AIRE (R15H)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 68226	NM_000383.4(AIRE):c.44G>T (p.Arg15Leu)	AIRE (R15L)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 1979417	NM_000383.4(AIRE):c.45C>T (p.Arg15=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2110918	NM_000383.4(AIRE):c.46A>G (p.Thr16Ala)	AIRE (T16A)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 68227	NM_000383.4(AIRE):c.47C>T (p.Thr16Met)	AIRE (T16M)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 1139531	NM_000383.4(AIRE):c.48G>C (p.Thr16=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 862567	NM_000383.4(AIRE):c.51G>C (p.Glu17Asp)	AIRE (E17D)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2030154	NM_000383.4(AIRE):c.54C>G (p.Ile18Met)	AIRE (I18M)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 553601	NM_000383.4(AIRE):c.55G>A (p.Ala19Thr)	AIRE (A19T)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 1157296	NM_000383.4(AIRE):c.57G>A (p.Ala19=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 1724171	NM_000383.4(AIRE):c.61del (p.Ala21fs)	AIRE (A21fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 68228	NM_000383.4(AIRE):c.62C>T (p.Ala21Val)	AIRE (A21V)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic/Likely pathogenic

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