ClinVar for MedGen (Select 140770) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248263	NC_000020.10:g.(?_31380412)_(31383520_?)dup	DNMT3B	Duplication	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely pathogenic
Select item 3248262	NC_000020.10:g.(?_31368130)_(31592146_?)del	DNMT3B, EFCAB8 +2 more	Deletion	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GPathogenic
Select item 3022309	NM_006892.4(DNMT3B):c.1674+9C>T	DNMT3B, LOC126863014	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 3021410	NM_006892.4(DNMT3B):c.432+11C>T	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 3019460	NM_006892.4(DNMT3B):c.1126+15T>G	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 3018987	NM_006892.4(DNMT3B):c.1996+14T>C	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 3018465	NM_006892.4(DNMT3B):c.2004A>G (p.Thr668=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 3018034	NM_006892.4(DNMT3B):c.1759+9G>A	DNMT3B, LOC126863014	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
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 3016196	NM_006892.4(DNMT3B):c.2214C>T (p.Asn738=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
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 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 3012715	NM_006892.4(DNMT3B):c.1609C>A (p.Arg537=)	DNMT3B, LOC126863014	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 3012284	NM_006892.4(DNMT3B):c.433-8G>A	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 3011662	NM_006892.4(DNMT3B):c.654+11G>A	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 3010586	NM_006892.4(DNMT3B):c.306+17C>G	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 3010322	NM_006892.4(DNMT3B):c.2231+16T>C	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 3008719	NM_006892.4(DNMT3B):c.813+9G>T	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 3007072	NM_006892.4(DNMT3B):c.2118C>T (p.Asp706=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 3006631	NM_006892.4(DNMT3B):c.2145+14G>A	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 3006349	NM_006892.4(DNMT3B):c.360C>G (p.Ser120=)	DNMT3B	Single nucleotide variant (synonymous variant +1 more)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 3005749	NM_006892.4(DNMT3B):c.1248C>T (p.Ser416=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
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 3002471	NM_006892.4(DNMT3B):c.2420+19G>C	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2999787	NM_006892.4(DNMT3B):c.1491-12C>T	LOC126863014, DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2996556	NM_006892.4(DNMT3B):c.1674+7C>T	DNMT3B, LOC126863014	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2996502	NM_006892.4(DNMT3B):c.433-2A>G	DNMT3B	Single nucleotide variant (splice acceptor variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely pathogenic
Select item 2996461	NM_006892.4(DNMT3B):c.2301+8G>A	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2995835	NM_006892.4(DNMT3B):c.2302-7T>C	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2994690	NM_006892.4(DNMT3B):c.639C>T (p.Asp213=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2994178	NM_006892.4(DNMT3B):c.723C>T (p.Ala241=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2992501	NM_006892.4(DNMT3B):c.1298-6T>C	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2990536	NM_006892.4(DNMT3B):c.655-17T>C	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2990218	NM_006892.4(DNMT3B):c.645A>G (p.Ser215=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2987655	NM_006892.4(DNMT3B):c.1760-19G>A	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2987639	NM_006892.4(DNMT3B):c.1596T>C (p.Cys532=)	DNMT3B, LOC126863014	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
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 2985941	NM_006892.4(DNMT3B):c.1760-13C>G	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2985045	NM_006892.4(DNMT3B):c.744C>T (p.Ala248=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2984642	NM_006892.4(DNMT3B):c.307-12T>C	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2981803	NM_006892.4(DNMT3B):c.1297+19C>G	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2980142	NM_006892.4(DNMT3B):c.1608G>A (p.Leu536=)	DNMT3B, LOC126863014	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2979106	NM_006892.4(DNMT3B):c.1845C>T (p.Thr615=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2979011	NM_006892.4(DNMT3B):c.1067-15T>C	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2978900	NM_006892.4(DNMT3B):c.1760-12T>G	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2976053	NM_006892.4(DNMT3B):c.1996+12TC[2]	DNMT3B	Microsatellite (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2972341	NM_006892.4(DNMT3B):c.2430C>T (p.Gly810=)	DNMT3B (L709F +3 more)	Single nucleotide variant (synonymous variant +1 more)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2969567	NM_006892.4(DNMT3B):c.1906-15G>C	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2968389	NM_006892.4(DNMT3B):c.2421-13C>T	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2967464	NM_006892.4(DNMT3B):c.2469T>C (p.Arg823=)	DNMT3B (W742R +3 more)	Single nucleotide variant (synonymous variant +1 more)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2967369	NM_006892.4(DNMT3B):c.754C>T (p.Arg252Ter)	DNMT3B (R210* +4 more)	Single nucleotide variant (nonsense)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GPathogenic
Select item 2967119	NM_006892.4(DNMT3B):c.624C>T (p.Asp208=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2965705	NM_006892.4(DNMT3B):c.1767A>C (p.Leu589=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2959292	NM_006892.4(DNMT3B):c.2220C>T (p.Pro740=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2958855	NM_006892.4(DNMT3B):c.2301+13G>A	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2957671	NM_006892.4(DNMT3B):c.1253-19CTT[2]	DNMT3B	Microsatellite (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2957642	NM_006892.4(DNMT3B):c.1560G>A (p.Glu520=)	DNMT3B, LOC126863014	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2954793	NM_006892.4(DNMT3B):c.1490+10G>A	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2916807	NM_006892.4(DNMT3B):c.1212T>C (p.Tyr404=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2914932	NM_006892.4(DNMT3B):c.2146-14_2146-12del	DNMT3B	Microsatellite (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2914454	NM_006892.4(DNMT3B):c.1066+15C>A	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2914205	NM_006892.4(DNMT3B):c.306+17C>T	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2912714	NM_006892.4(DNMT3B):c.1759+17_1759+42del	DNMT3B, LOC126863014	Deletion (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2912262	NM_006892.4(DNMT3B):c.1378-11C>T	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2911410	NM_006892.4(DNMT3B):c.1182C>G (p.Pro394=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2910986	NM_006892.4(DNMT3B):c.1253-5A>G	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2909375	NM_006892.4(DNMT3B):c.1704C>T (p.Pro568=)	DNMT3B, LOC126863014	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2909131	NM_006892.4(DNMT3B):c.1906-14TC[5]	DNMT3B	Microsatellite (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2906861	NM_006892.4(DNMT3B):c.2231+8A>G	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 2904204	NM_006892.4(DNMT3B):c.927T>C (p.Ala309=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2903785	NM_006892.4(DNMT3B):c.2145+8A>C	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2901940	NM_006892.4(DNMT3B):c.2019C>T (p.Phe673=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2901363	NM_006892.4(DNMT3B):c.2052C>T (p.Pro684=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2900268	NM_006892.4(DNMT3B):c.2415C>T (p.Leu805=)	DNMT3B	Single nucleotide variant (synonymous variant +1 more)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2900210	NM_006892.4(DNMT3B):c.1440G>T (p.Val480=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2897749	NM_006892.4(DNMT3B):c.1997-20G>A	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2897420	NM_006892.4(DNMT3B):c.1462C>T (p.Leu488=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2896688	NM_006892.4(DNMT3B):c.1760-15C>T	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2896686	NM_006892.4(DNMT3B):c.432+12A>G	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2896539	NM_006892.4(DNMT3B):c.1806C>T (p.Val602=)	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 2894778	NM_006892.4(DNMT3B):c.813+9G>A	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2891777	NM_006892.4(DNMT3B):c.372C>T (p.Thr124=)	DNMT3B	Single nucleotide variant (synonymous variant +1 more)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2888544	NM_006892.4(DNMT3B):c.1371A>G (p.Thr457=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2888203	NM_006892.4(DNMT3B):c.1920C>G (p.Gly640=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2887934	NM_006892.4(DNMT3B):c.2199A>G (p.Arg733=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2886090	NM_006892.4(DNMT3B):c.1253-19C>T	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2884920	NM_006892.4(DNMT3B):c.2376C>G (p.Val792=)	DNMT3B	Single nucleotide variant (synonymous variant +1 more)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2884917	NM_006892.4(DNMT3B):c.948C>G (p.Thr316=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2884482	NM_006892.4(DNMT3B):c.2421-15C>T	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2882539	NM_006892.4(DNMT3B):c.2145+9A>G	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2880526	NM_006892.4(DNMT3B):c.2231+11G>C	DNMT3B	Single nucleotide variant (intron 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 2876050	NM_006892.4(DNMT3B):c.1638G>A (p.Leu546=)	DNMT3B, LOC126863014	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign
Select item 2874786	NM_006892.4(DNMT3B):c.1453C>T (p.Arg485Ter)	DNMT3B (R423* +6 more)	Single nucleotide variant (nonsense)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GPathogenic
Select item 2873573	NM_006892.4(DNMT3B):c.1760-5del	DNMT3B	Deletion (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GBenign
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 2869645	NM_006892.4(DNMT3B):c.922-14C>T	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GLikely benign

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