"PreventionGenetics, part of Exact Sciences"[submitter] AND "DNMT3B"[g - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 719482	NM_006892.4(DNMT3B):c.124C>T (p.Arg42Cys)	DNMT3B (R54C +1 more)	Single nucleotide variant (missense variant)	DNMT3B-related disorder +1 more	GLikely benign
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 785653	NM_006892.4(DNMT3B):c.411C>T (p.Pro137=)	DNMT3B	Single nucleotide variant (synonymous variant +1 more)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more	GLikely benign
Select item 2072715	NM_006892.4(DNMT3B):c.568C>T (p.Arg190Cys)	DNMT3B (R190C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 530707	NM_006892.4(DNMT3B):c.608C>T (p.Pro203Leu)	DNMT3B (P203L +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 751570	NM_006892.4(DNMT3B):c.684C>T (p.Leu228=)	DNMT3B	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 715699	NM_006892.4(DNMT3B):c.813+8C>T	DNMT3B	Single nucleotide variant (intron variant)	DNMT3B-related disorder +1 more	GLikely benign
Select item 853590	NM_006892.4(DNMT3B):c.930G>C (p.Arg310Ser)	DNMT3B (R268S +3 more)	Single nucleotide variant (missense variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more	GUncertain significance
Select item 1158085	NM_006892.4(DNMT3B):c.1059G>A (p.Thr353=)	DNMT3B	Single nucleotide variant (synonymous variant)	DNMT3B-related disorder +1 more	GLikely benign
Select item 2066420	NM_006892.4(DNMT3B):c.1297+5C>T	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more	GConflicting classifications of pathogenicity
Select item 1055007	NM_006892.4(DNMT3B):c.1297+6G>A	DNMT3B	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 745337	NM_006892.4(DNMT3B):c.1297+9C>T	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +1 more	GLikely benign
Select item 338166	NM_006892.4(DNMT3B):c.1297+10T>C	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +2 more	GConflicting classifications of pathogenicity
Select item 1437989	NM_006892.4(DNMT3B):c.1353G>A (p.Glu451=)	DNMT3B	Single nucleotide variant (synonymous variant)	DNMT3B-related disorder +1 more	GLikely benign
Select item 338169	NM_006892.4(DNMT3B):c.1557G>A (p.Gln519=)	DNMT3B, LOC126863014	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +3 more	GBenign/Likely benign
Select item 338174	NM_006892.4(DNMT3B):c.1760-8C>T	DNMT3B	Single nucleotide variant (intron variant)	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 +3 more	GBenign/Likely benign
Select item 338173	NM_006892.4(DNMT3B):c.1760-8C>G	DNMT3B	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 3030309	NM_006892.4(DNMT3B):c.1767A>G (p.Leu589=)	DNMT3B	Single nucleotide variant (synonymous variant)	DNMT3B-related disorder	GLikely benign
Select item 3034082	NM_006892.4(DNMT3B):c.1906-5_1906-4del	DNMT3B	Deletion (intron variant)	DNMT3B-related disorder	GLikely benign
Select item 739184	NM_006892.4(DNMT3B):c.1947C>T (p.Ser649=)	DNMT3B	Single nucleotide variant (synonymous variant)	DNMT3B-related disorder +1 more	GLikely benign
Select item 338181	NM_006892.4(DNMT3B):c.1996+6C>T	DNMT3B	Single nucleotide variant (intron variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +3 more	GBenign
Select item 530713	NM_006892.4(DNMT3B):c.2142G>A (p.Leu714=)	DNMT3B	Single nucleotide variant (synonymous variant)	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency +3 more	GConflicting classifications of pathogenicity

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Items: 24