C0085859[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 551136	NM_000383.4(AIRE):c.1A>G (p.Met1Val)	AIRE (M1V)	Single nucleotide variant (missense variant +1 more)	Polyglandular autoimmune syndrome, type 1 +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 556137	NM_000383.4(AIRE):c.20_24del (p.Leu7fs)	AIRE (L7fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
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 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 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 68228	NM_000383.4(AIRE):c.62C>T (p.Ala21Val)	AIRE (A21V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370150	NM_000383.4(AIRE):c.157G>T (p.Glu53Ter)	AIRE (E53*)	Single nucleotide variant (nonsense)	Polyglandular autoimmune syndrome, type 1	GPathogenic/Likely pathogenic
Select item 556161	NM_000383.4(AIRE):c.173C>A (p.Ala58Asp)	AIRE (A58D)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GConflicting classifications of pathogenicity
Select item 189060	NM_000383.4(AIRE):c.232T>C (p.Trp78Arg)	AIRE (W78R)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GPathogenic
Select item 370451	NM_000383.4(AIRE):c.233G>A (p.Trp78Ter)	AIRE (W78*)	Single nucleotide variant (nonsense)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 370090	NM_000383.4(AIRE):c.255C>A (p.Tyr85Ter)	AIRE (Y85*)	Single nucleotide variant (nonsense)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 371637	NM_000383.4(AIRE):c.260del (p.Leu87fs)	AIRE (L87fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 379319	NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)	AIRE (R92W)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 557904	NM_000383.4(AIRE):c.319_321delinsTG (p.Ser107fs)	AIRE (S107fs)	Indel (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 553161	NM_000383.4(AIRE):c.328del (p.Arg110fs)	AIRE (R110fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3310	NM_000383.4(AIRE):c.415C>T (p.Arg139Ter)	AIRE (R139*)	Single nucleotide variant (nonsense)	Polyglandular autoimmune syndrome, type 1 +1 more	GPathogenic
Select item 370206	NM_000383.4(AIRE):c.457_458delinsC (p.Ser153fs)	AIRE (S153fs)	Indel (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 188800	NM_000383.4(AIRE):c.463+2T>C	AIRE	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 558066	NM_000383.4(AIRE):c.464-2A>T	AIRE	Single nucleotide variant (splice acceptor variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 556568	NM_000383.4(AIRE):c.512_516dup (p.Gln173fs)	AIRE (Q173fs)	Duplication (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 371397	NM_000383.4(AIRE):c.517C>T (p.Gln173Ter)	AIRE (Q173*)	Single nucleotide variant (nonsense)	Polyglandular autoimmune syndrome, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 370839	NM_000383.4(AIRE):c.652+1G>T	AIRE	Single nucleotide variant (splice donor variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 556272	NM_000383.4(AIRE):c.652+2T>C	AIRE	Single nucleotide variant (splice donor variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 35668	NM_000383.4(AIRE):c.755C>T (p.Pro252Leu)	AIRE (P252L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 550974	NM_000383.4(AIRE):c.798+1G>C	AIRE	Single nucleotide variant (splice donor variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 550699	NM_000383.4(AIRE):c.798+1G>T	AIRE	Single nucleotide variant (splice donor variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 487443	NM_000383.4(AIRE):c.798+1G>A	AIRE	Single nucleotide variant (splice donor variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic/Likely pathogenic
Select item 371434	NM_000383.4(AIRE):c.809_810del (p.Glu270fs)	AIRE (E270fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 81875	NM_000383.4(AIRE):c.880-451G>A	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 558351	NM_000383.4(AIRE):c.892G>A (p.Glu298Lys)	AIRE (E298K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 554933	NM_000383.4(AIRE):c.931del (p.Cys311fs)	AIRE (C311fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 371106	NM_000383.4(AIRE):c.977del (p.Pro326fs)	AIRE (P326fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 550476	NM_000383.4(AIRE):c.1002del (p.Trp335fs)	AIRE (W335fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 552213	NM_000383.4(AIRE):c.1054_1068dup (p.Ala352_Arg356dup)	AIRE	Duplication (inframe_insertion)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 552619	NM_000383.4(AIRE):c.1054_1068del (p.Ala352_Arg356del)	AIRE	Deletion (inframe_deletion)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 550748	NM_000383.4(AIRE):c.1065_1079del (p.Arg356_Pro360del)	AIRE	Deletion (inframe_deletion)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 551864	NM_000383.4(AIRE):c.1066dup (p.Arg356fs)	AIRE (R356fs)	Duplication (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic/Likely pathogenic
Select item 550144	NM_000383.4(AIRE):c.1078_1089del (p.Pro360_Glu363del)	AIRE	Deletion (inframe_deletion)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 371416	NM_000383.4(AIRE):c.1084del (p.Val362fs)	AIRE (V362fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic/Likely pathogenic
Select item 557251	NM_000383.4(AIRE):c.1095+1G>A	AIRE	Single nucleotide variant (splice donor variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 555124	NM_000383.4(AIRE):c.1095+23_1095+64del	AIRE	Deletion (intron variant)	Polyglandular autoimmune syndrome, type 1	GConflicting classifications of pathogenicity
Select item 551625	NM_000383.4(AIRE):c.1096-1G>A	AIRE	Single nucleotide variant (splice acceptor variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 370337	NM_000383.4(AIRE):c.1116_1117del (p.Ala373fs)	AIRE (A373fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 56221	NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs)	AIRE (M388fs)	Insertion (frameshift variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GPathogenic
Select item 551697	NM_000383.4(AIRE):c.1193del (p.Pro398fs)	AIRE (P398fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 550030	NM_000383.4(AIRE):c.1209_1213dup (p.Pro405fs)	AIRE (P405fs)	Duplication (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 188935	NM_000383.4(AIRE):c.1249dup (p.Leu417fs)	AIRE (L417fs)	Duplication (frameshift variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 265456	NM_000383.4(AIRE):c.1265del (p.Pro422fs)	AIRE (P422fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 370984	NM_000383.4(AIRE):c.1278+1del	AIRE	Deletion (splice donor variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 557079	NM_000383.4(AIRE):c.1279-2A>G	AIRE	Single nucleotide variant (splice acceptor variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 551175	NM_000383.4(AIRE):c.1336T>G (p.Cys446Gly)	AIRE (C446G)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 550499	NM_000383.4(AIRE):c.1450G>A (p.Val484Met)	AIRE (V484M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 556485	NM_000383.4(AIRE):c.1470dup (p.Ser491fs)	AIRE (S491fs)	Duplication (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 371185	NM_000383.4(AIRE):c.1480_1483del (p.Arg494fs)	AIRE (R494fs)	Microsatellite (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic/Likely pathogenic
Select item 370846	NM_000383.4(AIRE):c.1566+2dup	AIRE, LOC130066813	Duplication (splice donor variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 371075	NM_000383.4(AIRE):c.1566+2T>A	LOC130066813, AIRE	Single nucleotide variant (splice donor variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic/Likely pathogenic
Select item 554353	NM_000383.4(AIRE):c.1567-18C>T	AIRE, LOC130066814	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 551748	NM_000383.4(AIRE):c.1567-2A>G	AIRE	Single nucleotide variant (splice acceptor variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 554782	NM_000383.4(AIRE):c.1588C>T (p.Gln530Ter)	AIRE (Q530*)	Single nucleotide variant (nonsense)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 550335	NM_000383.4(AIRE):c.1612del (p.Arg538fs)	AIRE (R538fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 68218	NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu)	AIRE (P539L)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 56222	NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys)	AIRE	Single nucleotide variant (stop lost)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic

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Items: 66