1343[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 1081740	NM_147686.4(TRAF3IP2):c.1692C>G (p.Pro564=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 2019377	NM_147686.4(TRAF3IP2):c.1686G>T (p.Val562=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 582451	NM_147686.4(TRAF3IP2):c.1681C>T (p.Gln561Ter)	TRAF3IP2, TRAF3IP2-AS1 (Q561* +3 more)	Single nucleotide variant (nonsense)	Candidiasis, familial, 8	GUncertain significance
Select item 2127828	NM_147686.4(TRAF3IP2):c.1680T>C (p.Leu560=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 3018033	NM_147686.4(TRAF3IP2):c.1677C>G (p.Thr559=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 1123268	NM_147686.4(TRAF3IP2):c.1674C>A (p.Pro558=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 2274296	NM_147686.4(TRAF3IP2):c.1661G>A (p.Arg554Gln)	TRAF3IP2, TRAF3IP2-AS1 (R553Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2154697	NM_147686.4(TRAF3IP2):c.1636G>A (p.Glu546Lys)	TRAF3IP2, TRAF3IP2-AS1 (E546K +3 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1361481	NM_147686.4(TRAF3IP2):c.1613dup (p.Asn538fs)	TRAF3IP2, TRAF3IP2-AS1 (N537fs +3 more)	Duplication (frameshift variant)	Candidiasis, familial, 8	GUncertain significance
Select item 474038	NM_147686.4(TRAF3IP2):c.1614C>T (p.Asn538=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GBenign
Select item 1896854	NM_147686.4(TRAF3IP2):c.1597C>T (p.Pro533Ser)	TRAF3IP2-AS1, TRAF3IP2 (P542S +3 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 715353	NM_147686.4(TRAF3IP2):c.1583A>G (p.His528Arg)	TRAF3IP2, TRAF3IP2-AS1 (H528R +3 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GBenign
Select item 88768	NM_147686.4(TRAF3IP2):c.1580C>T (p.Thr527Ile)	TRAF3IP2, TRAF3IP2-AS1 (T536I +2 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GPathogenic
Select item 1160063	NM_147686.4(TRAF3IP2):c.1575G>A (p.Gln525=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 1395496	NM_147686.4(TRAF3IP2):c.1574A>G (p.Gln525Arg)	TRAF3IP2, TRAF3IP2-AS1 (Q69R +3 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 3064204	NM_147686.4(TRAF3IP2):c.1568G>C (p.Trp523Ser)	TRAF3IP2, TRAF3IP2-AS1 (W522S +3 more)	Single nucleotide variant (missense variant)	Psoriasis 13, susceptibility to	GUncertain significance
Select item 1437178	NM_147686.4(TRAF3IP2):c.1564A>G (p.Thr522Ala)	TRAF3IP2, TRAF3IP2-AS1 (T66A +3 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 566723	NM_147686.4(TRAF3IP2):c.1552G>T (p.Glu518Ter)	TRAF3IP2, TRAF3IP2-AS1 (E518* +3 more)	Single nucleotide variant (nonsense)	Candidiasis, familial, 8	GUncertain significance
Select item 1006065	NM_147686.4(TRAF3IP2):c.1552-6C>A	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (intron variant)	Candidiasis, familial, 8	GLikely benign
Select item 1579105	NM_147686.4(TRAF3IP2):c.1551+17del	TRAF3IP2, TRAF3IP2-AS1	Deletion (intron variant)	Candidiasis, familial, 8	GLikely benign
Select item 1115485	NM_147686.4(TRAF3IP2):c.1551+14_1551+17del	TRAF3IP2, TRAF3IP2-AS1	Deletion (intron variant)	Candidiasis, familial, 8	GLikely benign
Select item 1607885	NM_147686.4(TRAF3IP2):c.1551+14G>C	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (intron variant)	Candidiasis, familial, 8	GLikely benign
Select item 1627223	NM_147686.4(TRAF3IP2):c.1551+10_1551+13del	TRAF3IP2, TRAF3IP2-AS1	Microsatellite (intron variant)	Candidiasis, familial, 8	GLikely benign
Select item 2031969	NM_147686.4(TRAF3IP2):c.1530G>A (p.Val510=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 795241	NM_147686.4(TRAF3IP2):c.1524C>T (p.Ile508=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 858701	NM_147686.4(TRAF3IP2):c.1507A>G (p.Met503Val)	TRAF3IP2, TRAF3IP2-AS1 (M502V +3 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1929578	NM_147686.4(TRAF3IP2):c.1477-13T>A	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (intron variant)	Candidiasis, familial, 8	GUncertain significance
Select item 2845181	NM_147686.4(TRAF3IP2):c.1477-15T>C	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (intron variant)	Candidiasis, familial, 8	GLikely benign
Select item 1489682	NM_147686.4(TRAF3IP2):c.1472G>A (p.Arg491Gln)	TRAF3IP2, TRAF3IP2-AS1 (R500Q +3 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 2167641	NM_147686.4(TRAF3IP2):c.1471C>T (p.Arg491Ter)	TRAF3IP2, TRAF3IP2-AS1 (R35* +3 more)	Single nucleotide variant (nonsense)	Candidiasis, familial, 8	GPathogenic
Select item 1396285	NM_147686.4(TRAF3IP2):c.1457C>T (p.Thr486Ile)	TRAF3IP2, TRAF3IP2-AS1 (T30I +3 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1039855	NM_147686.4(TRAF3IP2):c.1440T>G (p.Asp480Glu)	TRAF3IP2-AS1, TRAF3IP2 (D480E +3 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 972376	NM_147686.4(TRAF3IP2):c.1435G>A (p.Glu479Lys)	TRAF3IP2, TRAF3IP2-AS1 (E23K +3 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 2083912	NM_147686.4(TRAF3IP2):c.1434C>T (p.Asp478=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 2251910	NM_147686.4(TRAF3IP2):c.1424C>T (p.Ser475Leu)	TRAF3IP2, TRAF3IP2-AS1 (S474L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1000396	NM_147686.4(TRAF3IP2):c.1417G>A (p.Ala473Thr)	TRAF3IP2, TRAF3IP2-AS1 (A17T +3 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8 +1 more	GUncertain significance
Select item 3015227	NM_147686.4(TRAF3IP2):c.1416C>T (p.Gly472=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 1393676	NM_147686.4(TRAF3IP2):c.1408G>A (p.Val470Met)	TRAF3IP2, TRAF3IP2-AS1 (V14M +3 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 2077654	NM_147686.4(TRAF3IP2):c.1407C>T (p.Asp469=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 950375	NM_147686.4(TRAF3IP2):c.1396T>A (p.Tyr466Asn)	TRAF3IP2, TRAF3IP2-AS1 (Y465N +3 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 860464	NM_147686.4(TRAF3IP2):c.1378G>A (p.Val460Ile)	TRAF3IP2, TRAF3IP2-AS1 (V460I +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 474037	NM_147686.4(TRAF3IP2):c.1377C>T (p.Ile459=)	TRAF3IP2-AS1, TRAF3IP2	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8 +1 more	GLikely benign
Select item 2014019	NM_147686.4(TRAF3IP2):c.1370T>C (p.Met457Thr)	TRAF3IP2, TRAF3IP2-AS1 (M457T +3 more)	Single nucleotide variant (missense variant +1 more)	Candidiasis, familial, 8	GUncertain significance
Select item 715397	NM_147686.4(TRAF3IP2):c.1365C>T (p.Thr455=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant +1 more)	Candidiasis, familial, 8	GBenign
Select item 962415	NM_147686.4(TRAF3IP2):c.1360-9C>G	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (intron variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1550537	NM_147686.4(TRAF3IP2):c.1360-13C>G	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (intron variant)	Candidiasis, familial, 8	GLikely benign
Select item 2726016	NM_147686.4(TRAF3IP2):c.1360-15C>G	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (intron variant)	Candidiasis, familial, 8	GLikely benign
Select item 2167625	NM_147686.4(TRAF3IP2):c.1346G>A (p.Arg449His)	TRAF3IP2, TRAF3IP2-AS1 (R458H +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 2146139	NM_147686.4(TRAF3IP2):c.1345C>A (p.Arg449Ser)	TRAF3IP2, TRAF3IP2-AS1 (R449S +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 945538	NM_147686.4(TRAF3IP2):c.1345C>T (p.Arg449Cys)	TRAF3IP2, TRAF3IP2-AS1 (R458C +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 718943	NM_147686.4(TRAF3IP2):c.1344G>A (p.Glu448=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 863238	NM_147686.4(TRAF3IP2):c.1328T>C (p.Ile443Thr)	TRAF3IP2, TRAF3IP2-AS1 (I452T +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1167703	NM_147686.4(TRAF3IP2):c.1291-13dup	TRAF3IP2, TRAF3IP2-AS1	Duplication (intron variant)	Candidiasis, familial, 8	GBenign
Select item 717703	NM_147686.4(TRAF3IP2):c.1291-5del	TRAF3IP2, TRAF3IP2-AS1	Deletion (intron variant)	Candidiasis, familial, 8	GBenign
Select item 1141039	NM_147686.4(TRAF3IP2):c.1291-8T>G	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (intron variant)	Candidiasis, familial, 8	GLikely benign
Select item 1566476	NM_147686.4(TRAF3IP2):c.1291-14C>G	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (intron variant)	Candidiasis, familial, 8	GLikely benign
Select item 1625479	NM_147686.4(TRAF3IP2):c.1290+15C>T	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (intron variant)	Candidiasis, familial, 8	GLikely benign
Select item 2075669	NM_147686.4(TRAF3IP2):c.1290+1_1290+2del	TRAF3IP2, TRAF3IP2-AS1	Deletion (splice donor variant)	Candidiasis, familial, 8	GLikely pathogenic
Select item 812084	NM_147686.4(TRAF3IP2):c.1286C>A (p.Thr429Asn)	TRAF3IP2, TRAF3IP2-AS1 (T429N +1 more)	Single nucleotide variant (missense variant)	Discoid lupus erythematosus	GPathogenic
Select item 709414	NM_147686.4(TRAF3IP2):c.1275T>C (p.Asn425=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 1539173	NM_147686.4(TRAF3IP2):c.1266G>A (p.Leu422=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 2180953	NM_147686.4(TRAF3IP2):c.1254C>T (p.Phe418=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 541097	NM_147686.4(TRAF3IP2):c.1249A>G (p.Lys417Glu)	TRAF3IP2, TRAF3IP2-AS1 (K417E +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 2777544	NM_147686.4(TRAF3IP2):c.1236T>C (p.Ala412=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 735355	NM_147686.4(TRAF3IP2):c.1233A>T (p.Thr411=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GBenign
Select item 794284	NM_147686.4(TRAF3IP2):c.1224G>A (p.Ser408=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 1054010	NM_147686.4(TRAF3IP2):c.1222del (p.Ser408fs)	TRAF3IP2, TRAF3IP2-AS1 (S408fs +1 more)	Deletion (frameshift variant)	Candidiasis, familial, 8	GPathogenic
Select item 761641	NM_147686.4(TRAF3IP2):c.1221T>C (p.Tyr407=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1560741	NM_147686.4(TRAF3IP2):c.1202-16A>G	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (intron variant)	Candidiasis, familial, 8	GLikely benign
Select item 2688002	NM_147686.4(TRAF3IP2):c.1201+69G>A	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688083	NM_147686.4(TRAF3IP2):c.1201+50T>C	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1570847	NM_147686.4(TRAF3IP2):c.1201+12G>C	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (intron variant)	Candidiasis, familial, 8	GLikely benign
Select item 2787870	NM_147686.4(TRAF3IP2):c.1201+2T>C	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (splice donor variant)	Candidiasis, familial, 8	GLikely pathogenic
Select item 2177771	NM_147686.4(TRAF3IP2):c.1201+1G>C	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (splice donor variant)	Candidiasis, familial, 8	GLikely pathogenic
Select item 1520347	NM_147686.4(TRAF3IP2):c.1201C>T (p.Arg401Trp)	TRAF3IP2, TRAF3IP2-AS1 (R401W +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1017182	NM_147686.4(TRAF3IP2):c.1193A>C (p.Glu398Ala)	TRAF3IP2, TRAF3IP2-AS1 (E398A +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1113433	NM_147686.4(TRAF3IP2):c.1185T>C (p.Asn395=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 541102	NM_147686.4(TRAF3IP2):c.1184A>G (p.Asn395Ser)	TRAF3IP2, TRAF3IP2-AS1 (N395S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1346392	NM_147686.4(TRAF3IP2):c.1126G>A (p.Ala376Thr)	TRAF3IP2, TRAF3IP2-AS1 (A376T +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1020870	NM_147686.4(TRAF3IP2):c.1121C>A (p.Ser374Tyr)	TRAF3IP2-AS1, TRAF3IP2 (S374Y +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 720224	NM_147686.4(TRAF3IP2):c.1119G>A (p.Pro373=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 1099058	NM_147686.4(TRAF3IP2):c.1089A>G (p.Ala363=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 658088	NM_147686.4(TRAF3IP2):c.1044_1084del (p.Pro349fs)	TRAF3IP2, TRAF3IP2-AS1 (P349fs +1 more)	Deletion (frameshift variant)	Candidiasis, familial, 8	GPathogenic
Select item 856960	NM_147686.4(TRAF3IP2):c.1082G>A (p.Cys361Tyr)	TRAF3IP2, TRAF3IP2-AS1 (C361Y +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1983197	NM_147686.4(TRAF3IP2):c.1071G>A (p.Glu357=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 1989076	NM_147686.4(TRAF3IP2):c.1064C>T (p.Pro355Leu)	TRAF3IP2, TRAF3IP2-AS1 (P355L +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1022809	NM_147686.4(TRAF3IP2):c.1063C>G (p.Pro355Ala)	TRAF3IP2, TRAF3IP2-AS1 (P355A +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 574786	NM_147686.4(TRAF3IP2):c.1058G>C (p.Gly353Ala)	TRAF3IP2, TRAF3IP2-AS1 (G353A +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 567507	NM_147686.4(TRAF3IP2):c.1058G>A (p.Gly353Asp)	TRAF3IP2, TRAF3IP2-AS1 (G353D +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8 +1 more	GUncertain significance
Select item 1390967	NM_147686.4(TRAF3IP2):c.1049A>G (p.Asn350Ser)	TRAF3IP2, TRAF3IP2-AS1 (N359S +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 2799953	NM_147686.4(TRAF3IP2):c.1032A>G (p.Pro344=)	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 2255798	NM_147686.4(TRAF3IP2):c.1024G>A (p.Asp342Asn)	TRAF3IP2, TRAF3IP2-AS1 (D342N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1481122	NM_147686.4(TRAF3IP2):c.1023-3T>C	TRAF3IP2, TRAF3IP2-AS1	Single nucleotide variant (intron variant)	Candidiasis, familial, 8	GUncertain significance

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