ClinVar for MedGen (Select 1636193) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500020	NM_006892.4(DNMT3B):c.1543G>A (p.Glu515Lys)	DNMT3B, LOC126863014 (E419K +4 more)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +1 more	GUncertain significance
Select item 2431542	NM_006892.4(DNMT3B):c.2262_2267del (p.Glu755_Leu756del)	DNMT3B	Deletion (inframe_deletion +1 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 1705256	NM_006892.4(DNMT3B):c.2441A>G (p.His814Arg)	DNMT3B (H655R +5 more)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +1 more	GLikely pathogenic
Select item 1683645	NM_006892.4(DNMT3B):c.2467C>G (p.Arg823Gly)	DNMT3B (R664G +5 more)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GLikely pathogenic
Select item 1675165	NM_006892.4(DNMT3B):c.1139G>A (p.Arg380Gln)	DNMT3B (R284Q +4 more)	Single nucleotide variant (missense variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more	GUncertain significance
Select item 1324289	NM_006892.4(DNMT3B):c.2506G>A (p.Val836Met)	DNMT3B (V677M +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1032498	NM_006892.4(DNMT3B):c.142+3G>A	DNMT3B	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 898984	NM_006892.4(DNMT3B):c.*112C>A	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 898983	NM_006892.4(DNMT3B):c.*101G>A	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 898982	NM_006892.4(DNMT3B):c.*75C>G	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GBenign
Select item 898981	NM_006892.4(DNMT3B):c.2529C>T (p.Phe843=)	DNMT3B	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 898904	NM_006892.4(DNMT3B):c.1376G>A (p.Arg459Gln)	DNMT3B (R397Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 898842	NM_006892.4(DNMT3B):c.437T>C (p.Leu146Pro)	DNMT3B (L158P +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 898841	NM_006892.4(DNMT3B):c.433-13C>T	DNMT3B	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 898840	NM_006892.4(DNMT3B):c.307-15C>G	DNMT3B	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 897913	NM_006892.4(DNMT3B):c.*1132C>T	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 897912	NM_006892.4(DNMT3B):c.*930G>A	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 897829	NM_006892.4(DNMT3B):c.2184T>C (p.Ala728=)	DNMT3B	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 897828	NM_006892.4(DNMT3B):c.2172C>G (p.Ile724Met)	DNMT3B (I628M +4 more)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 897680	NM_006892.4(DNMT3B):c.102G>A (p.Ser34=)	DNMT3B	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 897679	NM_006892.4(DNMT3B):c.-21C>T	DNMT3B, LOC130065670	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 896295	NM_006892.4(DNMT3B):c.*895T>C	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GBenign
Select item 896294	NM_006892.4(DNMT3B):c.*832T>C	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 896293	NM_006892.4(DNMT3B):c.*765G>A	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 896292	NM_006892.4(DNMT3B):c.*763A>G	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GLikely benign
Select item 896226	NM_006892.4(DNMT3B):c.1791G>A (p.Lys597=)	DNMT3B	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 896156	NM_006892.4(DNMT3B):c.1126+15T>C	DNMT3B	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +1 more	GBenign/Likely benign
Select item 896155	NM_006892.4(DNMT3B):c.921+13G>A	DNMT3B	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 896094	NM_006892.4(DNMT3B):c.-105C>T	DNMT3B, LOC130065670	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 896093	NM_006892.4(DNMT3B):c.-212C>T	DNMT3B, LOC130065670	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 896092	NM_006892.4(DNMT3B):c.-264C>T	DNMT3B, LOC130065670	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 896091	NM_006892.4(DNMT3B):c.-267C>A	DNMT3B, LOC130065670	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 895944	NM_006892.4(DNMT3B):c.1630G>A (p.Val544Met)	DNMT3B, LOC126863014 (V482M +4 more)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +1 more	GUncertain significance
Select item 895883	NM_006892.4(DNMT3B):c.810C>T (p.Ser270=)	DNMT3B	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 895882	NM_006892.4(DNMT3B):c.539C>T (p.Thr180Met)	DNMT3B (T104M +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +1 more	GUncertain significance
Select item 895810	NM_006892.4(DNMT3B):c.-303G>A	DNMT3B, LOC130065670	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 894851	NM_006892.4(DNMT3B):c.*654G>A	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 894850	NM_006892.4(DNMT3B):c.*602C>T	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 894849	NM_006892.4(DNMT3B):c.*312C>G	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 863732	NM_006892.4(DNMT3B):c.132G>A (p.Pro44=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more	GConflicting classifications of pathogenicity
Select item 851975	NM_006892.4(DNMT3B):c.274C>T (p.Arg92Trp)	DNMT3B (R104W +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +1 more	GUncertain significance
Select item 811456	NM_006892.4(DNMT3B):c.2421-4C>T	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more	GLikely benign
Select item 803606	NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys)	DNMT3B (R806C +5 more)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 800927	NM_006892.4(DNMT3B):c.1337T>C (p.Phe446Ser)	DNMT3B (F438S +4 more)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +2 more	GUncertain significance
Select item 751570	NM_006892.4(DNMT3B):c.684C>T (p.Leu228=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +3 more	GConflicting classifications of pathogenicity
Select item 750677	NM_006892.4(DNMT3B):c.1542C>T (p.Ala514=)	DNMT3B, LOC126863014	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 740848	NM_006892.4(DNMT3B):c.1490+9T>C	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more	GConflicting classifications of pathogenicity
Select item 737179	NM_006892.4(DNMT3B):c.720C>T (p.Pro240=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more	GConflicting classifications of pathogenicity
Select item 737007	NM_006892.4(DNMT3B):c.336C>T (p.Ser112=)	DNMT3B	Single nucleotide variant (synonymous variant +1 more)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more	GBenign
Select item 732894	NM_006892.4(DNMT3B):c.408C>T (p.Ser136=)	DNMT3B	Single nucleotide variant (synonymous variant +1 more)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more	GConflicting classifications of pathogenicity
Select item 714897	NM_006892.4(DNMT3B):c.1620G>A (p.Lys540=)	LOC126863014, DNMT3B	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 659703	NM_006892.4(DNMT3B):c.592G>T (p.Gly198Trp)	DNMT3B (G156W +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +2 more	GUncertain significance
Select item 657788	NM_006892.4(DNMT3B):c.2348_2349del (p.Gln783fs)	DNMT3B (Q783fs +2 more)	Deletion (frameshift variant +1 more)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more	GPathogenic/Likely pathogenic
Select item 642223	NM_006892.4(DNMT3B):c.2164G>A (p.Asp722Asn)	DNMT3B (D626N +4 more)	Single nucleotide variant (missense variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more	GUncertain significance
Select item 639128	NM_006892.4(DNMT3B):c.1591C>T (p.Arg531Cys)	DNMT3B, LOC126863014 (R511C +4 more)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +2 more	GUncertain significance
Select item 626095	NM_006892.4(DNMT3B):c.1490+8C>G	DNMT3B	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 567232	NM_006892.4(DNMT3B):c.1208_1209delinsAT (p.Cys403Tyr)	DNMT3B (C383Y +4 more)	Indel (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 530713	NM_006892.4(DNMT3B):c.2142G>A (p.Leu714=)	DNMT3B	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 530709	NM_006892.4(DNMT3B):c.42C>T (p.Ala14=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +2 more	GBenign/Likely benign
Select item 530707	NM_006892.4(DNMT3B):c.608C>T (p.Pro203Leu)	DNMT3B (P203L +3 more)	Single nucleotide variant (missense variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +3 more	GConflicting classifications of pathogenicity
Select item 530703	NM_006892.4(DNMT3B):c.73G>A (p.Gly25Arg)	DNMT3B (G25R +1 more)	Single nucleotide variant (missense variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +4 more	GConflicting classifications of pathogenicity
Select item 461482	NM_006892.4(DNMT3B):c.2292G>T (p.Arg764Ser)	DNMT3B (R764S +2 more)	Single nucleotide variant (missense variant +1 more)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more	GConflicting classifications of pathogenicity
Select item 461480	NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr)	DNMT3B (A384T +4 more)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +2 more	GBenign
Select item 450701	NM_006892.4(DNMT3B):c.1144C>T (p.Arg382Cys)	DNMT3B (R382C +4 more)	Single nucleotide variant (missense variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +3 more	GUncertain significance
Select item 423264	NM_006892.4(DNMT3B):c.886G>A (p.Val296Ile)	DNMT3B (V296I +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 423263	NM_006892.4(DNMT3B):c.1330G>A (p.Val444Met)	DNMT3B (V444M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 338205	NM_006892.4(DNMT3B):c.*1405C>T	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338204	NM_006892.4(DNMT3B):c.*1350G>C	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338203	NM_006892.4(DNMT3B):c.*1336G>A	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338202	NM_006892.4(DNMT3B):c.*1332C>T	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338201	NM_006892.4(DNMT3B):c.*1318del	DNMT3B	Deletion (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GBenign
Select item 338200	NM_006892.4(DNMT3B):c.*1076C>T	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338199	NM_006892.4(DNMT3B):c.*1064del	DNMT3B	Deletion (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338198	NM_006892.4(DNMT3B):c.*942A>T	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GLikely benign
Select item 338197	NM_006892.4(DNMT3B):c.*827A>G	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +1 more	GBenign
Select item 338196	NM_006892.4(DNMT3B):c.*754G>A	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338195	NM_006892.4(DNMT3B):c.*747C>T	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338194	NM_006892.4(DNMT3B):c.*577C>T	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338193	NM_006892.4(DNMT3B):c.*560C>T	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338192	NM_006892.4(DNMT3B):c.*443C>T	DNMT3B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 338191	NM_006892.4(DNMT3B):c.*299del	DNMT3B	Deletion (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338190	NM_006892.4(DNMT3B):c.*245dup	DNMT3B	Duplication (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338189	NM_006892.4(DNMT3B):c.*183C>T	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338188	NM_006892.4(DNMT3B):c.*113G>A	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338187	NM_006892.4(DNMT3B):c.*90T>G	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338186	NM_006892.4(DNMT3B):c.*70G>A	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338185	NM_006892.4(DNMT3B):c.*55G>T	DNMT3B	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338184	NM_006892.4(DNMT3B):c.2311G>A (p.Val771Ile)	DNMT3B (V771I +2 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338183	NM_006892.4(DNMT3B):c.1996+9C>T	DNMT3B	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 338182	NM_006892.4(DNMT3B):c.1996+7A>G	DNMT3B	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 338181	NM_006892.4(DNMT3B):c.1996+6C>T	DNMT3B	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +2 more	GBenign
Select item 338180	NM_006892.4(DNMT3B):c.1906-5T>C	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +3 more	GBenign
Select item 338179	NM_006892.4(DNMT3B):c.1881C>T (p.Asp627=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +2 more	GBenign
Select item 338178	NM_006892.4(DNMT3B):c.1878C>T (p.Asn626=)	DNMT3B	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +2 more	GBenign
Select item 338177	NM_006892.4(DNMT3B):c.1860G>C (p.Gly620=)	DNMT3B	Single nucleotide variant (synonymous variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338176	NM_006892.4(DNMT3B):c.1804G>A (p.Val602Ile)	DNMT3B (V602I +4 more)	Single nucleotide variant (missense variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more	GConflicting classifications of pathogenicity
Select item 338175	NM_006892.4(DNMT3B):c.1760-5C>G	DNMT3B	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +3 more	GBenign
Select item 338174	NM_006892.4(DNMT3B):c.1760-8C>T	DNMT3B	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +2 more	GBenign/Likely benign
Select item 338173	NM_006892.4(DNMT3B):c.1760-8C>G	DNMT3B	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +2 more	GBenign
Select item 338172	NM_006892.4(DNMT3B):c.1760-9C>T	DNMT3B	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance

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