1789[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 1170166	NC_000020.11:g.32762102T>C	DNMT3B	Single nucleotide variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GBenign
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 338146	NM_006892.4(DNMT3B):c.-274C>T	DNMT3B, LOC130065670	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
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 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 338147	NM_006892.4(DNMT3B):c.-234G>C	DNMT3B, LOC130065670	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
Select item 338148	NM_006892.4(DNMT3B):c.-224C>A	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 338149	NM_006892.4(DNMT3B):c.-163A>C	DNMT3B, LOC130065670	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
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 338150	NM_006892.4(DNMT3B):c.-62C>G	DNMT3B, LOC130065670	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GUncertain significance
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 402792	NM_006892.4(DNMT3B):c.-6-176C>T	DNMT3B	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2325527	NM_006892.4(DNMT3B):c.10G>C (p.Asp4His)	DNMT3B (D16H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1043568	NM_006892.4(DNMT3B):c.14C>G (p.Thr5Ser)	DNMT3B (T5S +1 more)	Single nucleotide variant (missense variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GUncertain significance
Select item 2179509	NM_006892.4(DNMT3B):c.30A>G (p.Gly10=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 712912	NM_006892.4(DNMT3B):c.39C>T (p.Asp13=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 1404403	NM_006892.4(DNMT3B):c.40G>C (p.Ala14Pro)	DNMT3B (A14P +1 more)	Single nucleotide variant (missense variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GUncertain significance
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 +3 more	GBenign/Likely benign
Select item 1017462	NM_006892.4(DNMT3B):c.43G>A (p.Gly15Ser)	DNMT3B (G15S +1 more)	Single nucleotide variant (missense variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more	GConflicting classifications of pathogenicity
Select item 3015832	NM_006892.4(DNMT3B):c.45C>T (p.Gly15=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2058708	NM_006892.4(DNMT3B):c.57C>G (p.Asp19Glu)	DNMT3B (D31E +1 more)	Single nucleotide variant (missense variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GUncertain significance
Select item 1622552	NM_006892.4(DNMT3B):c.57C>T (p.Asp19=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2896314	NM_006892.4(DNMT3B):c.60G>T (p.Ser20=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2878535	NM_006892.4(DNMT3B):c.60G>C (p.Ser20=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2192258	NM_006892.4(DNMT3B):c.60G>A (p.Ser20=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 731286	NM_006892.4(DNMT3B):c.66C>T (p.Leu22=)	DNMT3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1402644	NM_006892.4(DNMT3B):c.67G>A (p.Val23Ile)	DNMT3B (V23I +1 more)	Single nucleotide variant (missense variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GUncertain significance
Select item 749868	NM_006892.4(DNMT3B):c.72C>T (p.Asn24=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
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 +3 more	GUncertain significance
Select item 2872018	NM_006892.4(DNMT3B):c.75G>A (p.Gly25=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 1457234	NM_006892.4(DNMT3B):c.78C>T (p.Ala26=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 1584020	NM_006892.4(DNMT3B):c.84C>T (p.Ser28=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 1034541	NM_006892.4(DNMT3B):c.85G>A (p.Asp29Asn)	DNMT3B (D29N +1 more)	Single nucleotide variant (missense variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GUncertain significance
Select item 6743	NM_006892.4(DNMT3B):c.88C>T (p.Gln30Ter)	DNMT3B (Q42* +1 more)	Single nucleotide variant (nonsense)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	GPathogenic
Select item 2823594	NM_006892.4(DNMT3B):c.96C>G (p.Ser32=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 723741	NM_006892.4(DNMT3B):c.96C>T (p.Ser32=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more	GLikely benign
Select item 2194545	NM_006892.4(DNMT3B):c.99C>T (p.Asp33=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 858241	NM_006892.4(DNMT3B):c.101C>T (p.Ser34Leu)	DNMT3B (S46L +1 more)	Single nucleotide variant (missense variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	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 338151	NM_006892.4(DNMT3B):c.115G>C (p.Glu39Gln)	DNMT3B (E39Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 719482	NM_006892.4(DNMT3B):c.124C>T (p.Arg42Cys)	DNMT3B (R54C +1 more)	Single nucleotide variant (missense variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more	GLikely benign
Select item 2743018	NM_006892.4(DNMT3B):c.126C>T (p.Arg42=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 653617	NM_006892.4(DNMT3B):c.128C>T (p.Thr43Ile)	DNMT3B (T43I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3005141	NM_006892.4(DNMT3B):c.129C>T (p.Thr43=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2070091	NM_006892.4(DNMT3B):c.130C>T (p.Pro44Ser)	DNMT3B (P56S +1 more)	Single nucleotide variant (missense variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GUncertain significance
Select item 1366987	NM_006892.4(DNMT3B):c.131C>T (p.Pro44Leu)	DNMT3B (P56L +1 more)	Single nucleotide variant (missense variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	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 2283279	NM_006892.4(DNMT3B):c.134A>C (p.Glu45Ala)	DNMT3B (E45A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2710000	NM_006892.4(DNMT3B):c.139A>C (p.Arg47=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
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 1412254	NM_006892.4(DNMT3B):c.142+4G>T	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GUncertain significance
Select item 713239	NM_006892.4(DNMT3B):c.142+7G>A	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2862283	NM_006892.4(DNMT3B):c.142+10C>A	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2059124	NM_006892.4(DNMT3B):c.142+17G>C	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2853776	NM_006892.4(DNMT3B):c.142+20T>C	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 1170167	NM_006892.4(DNMT3B):c.143-22del	DNMT3B	Deletion (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GBenign
Select item 2849492	NM_006892.4(DNMT3B):c.143-20C>G	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2696341	NM_006892.4(DNMT3B):c.143-10T>C	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 338152	NM_006892.4(DNMT3B):c.143-9C>G	DNMT3B	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 338153	NM_006892.4(DNMT3B):c.143-8C>T	DNMT3B	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2987392	NM_006892.4(DNMT3B):c.143-5T>A	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 1036693	NM_006892.4(DNMT3B):c.143-3C>T	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GUncertain significance
Select item 574974	NM_006892.4(DNMT3B):c.143G>A (p.Gly48Asp)	DNMT3B (G48D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 950309	NM_006892.4(DNMT3B):c.145C>T (p.Arg49Ter)	DNMT3B (R61* +1 more)	Single nucleotide variant (nonsense)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GPathogenic
Select item 2860101	NM_006892.4(DNMT3B):c.150A>G (p.Arg50=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 849012	NM_006892.4(DNMT3B):c.154A>C (p.Ser52Arg)	DNMT3B (S52R +1 more)	Single nucleotide variant (missense variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GUncertain significance
Select item 338154	NM_006892.4(DNMT3B):c.158C>T (p.Ser53Leu)	DNMT3B (S53L +1 more)	Single nucleotide variant (missense variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more	GUncertain significance
Select item 530711	NM_006892.4(DNMT3B):c.159G>A (p.Ser53=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more	GLikely benign
Select item 2736958	NM_006892.4(DNMT3B):c.160C>T (p.Arg54Ter)	DNMT3B (R54* +1 more)	Single nucleotide variant (nonsense)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GPathogenic
Select item 749657	NM_006892.4(DNMT3B):c.162A>G (p.Arg54=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2830982	NM_006892.4(DNMT3B):c.165C>A (p.Leu55=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 1660462	NM_006892.4(DNMT3B):c.165C>G (p.Leu55=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 452578	NM_006892.4(DNMT3B):c.167C>T (p.Ser56Phe)	DNMT3B (S56F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2440983	NM_006892.4(DNMT3B):c.178G>A (p.Val60Met)	DNMT3B (V60M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711392	NM_006892.4(DNMT3B):c.180G>A (p.Val60=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2539591	NM_006892.4(DNMT3B):c.182C>T (p.Ser61Phe)	DNMT3B (S61F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3016745	NM_006892.4(DNMT3B):c.183C>T (p.Ser61=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2829370	NM_006892.4(DNMT3B):c.189G>A (p.Leu63=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 1951127	NM_006892.4(DNMT3B):c.189G>T (p.Leu63=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 1353065	NM_006892.4(DNMT3B):c.197A>G (p.Tyr66Cys)	DNMT3B (Y78C +1 more)	Single nucleotide variant (missense variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GUncertain significance
Select item 2791599	NM_006892.4(DNMT3B):c.198C>T (p.Tyr66=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2759337	NM_006892.4(DNMT3B):c.201A>G (p.Thr67=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2779896	NM_006892.4(DNMT3B):c.204+8C>G	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 1600937	NM_006892.4(DNMT3B):c.204+13C>T	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GBenign
Select item 2709598	NM_006892.4(DNMT3B):c.204+14T>C	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2905975	NM_006892.4(DNMT3B):c.204+18C>G	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2699975	NM_006892.4(DNMT3B):c.205-18T>C	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2113045	NM_006892.4(DNMT3B):c.205-16A>G	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2850176	NM_006892.4(DNMT3B):c.205-14G>A	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 1542428	NM_006892.4(DNMT3B):c.205-9C>T	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 3014212	NM_006892.4(DNMT3B):c.205-6A>G	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 3008702	NM_006892.4(DNMT3B):c.205-5T>C	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2820794	NM_006892.4(DNMT3B):c.205-4A>T	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 567233	NM_006892.4(DNMT3B):c.216C>T (p.Gly72=)	DNMT3B	Single nucleotide variant (synonymous variant +1 more)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 1081910	NM_006892.4(DNMT3B):c.222C>T (p.Gly74=)	DNMT3B	Single nucleotide variant (synonymous variant +1 more)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign

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