Related gene-specific medical variations for Gene (Select 1788) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338299	NM_022552.5(DNMT3A):c.1759G>A (p.Gly587Arg)	DNMT3A (G364R +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 3257424	NM_022552.5(DNMT3A):c.449-4A>G	DNMT3A, LOC129933290	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3247407	NC_000002.11:g.(?_25522988)_(25536853_?)del	DNMT3A	Deletion	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 3065661	NM_022552.5(DNMT3A):c.2598-1G>C	DNMT3A	Single nucleotide variant (splice acceptor variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely pathogenic
Select item 3062634	GRCh37/hg19 2p23.3(chr2:25437125-25487783)x1	DNMT3A	Copy number loss	not specified	GUncertain significance
Select item 3062230	NM_022552.5(DNMT3A):c.1627G>C (p.Gly543Arg)	DNMT3A (G320R +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 3056079	NM_022552.5(DNMT3A):c.640-3830C>G	DNMT3A, LOC129933288 (P5A)	Single nucleotide variant (missense variant +1 more)	DNMT3A-related disorder	GUncertain significance
Select item 2977841	NM_022552.5(DNMT3A):c.468C>T (p.Thr156=)	DNMT3A, LOC129933290	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2889294	NM_022552.5(DNMT3A):c.475G>A (p.Glu159Lys)	DNMT3A, LOC129933290 (E159K)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2844336	NM_022552.5(DNMT3A):c.482T>A (p.Met161Lys)	DNMT3A, LOC129933290 (M161K)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 2756141	NM_022552.5(DNMT3A):c.457C>T (p.Gln153Ter)	DNMT3A, LOC129933290 (Q153*)	Single nucleotide variant (nonsense +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 2726713	NM_022552.5(DNMT3A):c.474C>T (p.Ile158=)	DNMT3A, LOC129933290	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 2635657	NM_022552.5(DNMT3A):c.640-3841T>A	DNMT3A, LOC129933288 (M1K)	Single nucleotide variant (missense variant +2 more)	DNMT3A-related disorder	GUncertain significance
Select item 2628699	NM_022552.5(DNMT3A):c.481A>G (p.Met161Val)	DNMT3A, LOC129933290 (M161V)	Single nucleotide variant (missense variant +1 more)	DNMT3A-related disorder	GUncertain significance
Select item 2580938	NM_022552.5(DNMT3A):c.2177G>T (p.Gly726Val)	DNMT3A (G503V +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 2575173	NM_022552.5(DNMT3A):c.1279G>T (p.Glu427Ter)	DNMT3A (E204* +3 more)	Single nucleotide variant (nonsense +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 2575076	NM_022552.5(DNMT3A):c.1258A>T (p.Lys420Ter)	DNMT3A (K197* +3 more)	Single nucleotide variant (nonsense +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 2440979	NM_022552.5(DNMT3A):c.553A>G (p.Met185Val)	DNMT3A (M185V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2440978	NM_022552.5(DNMT3A):c.1077CAA[1] (p.Asn360del)	DNMT3A (N137del +3 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2439901	NM_022552.5(DNMT3A):c.2051_2055del (p.Val684fs)	DNMT3A (V461fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2430003	NM_022552.5(DNMT3A):c.1280A>T (p.Glu427Val)	DNMT3A (E204V +3 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 2430002	NM_022552.5(DNMT3A):c.745C>T (p.Gln249Ter)	DNMT3A (Q249* +3 more)	Single nucleotide variant (nonsense +1 more)	Autism spectrum disorder	GLikely pathogenic
Select item 2060151	NM_022552.5(DNMT3A):c.480C>T (p.Ser160=)	DNMT3A, LOC129933290	Single nucleotide variant (synonymous variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely benign
Select item 1805187	NM_022552.5(DNMT3A):c.460A>G (p.Lys154Glu)	LOC129933290, DNMT3A (K154E)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 1801370	NM_022552.5(DNMT3A):c.2186G>A (p.Arg729Gln)	DNMT3A (R506Q +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely pathogenic
Select item 1676557	NM_153759.3(DNMT3A):c.1937C>T (p.Thr646Met)	DNMT3A (T612M +3 more)	Single nucleotide variant	not provided	GUncertain significance
Select item 1342607	NM_022552.5(DNMT3A):c.1791del (p.Arg598fs)	DNMT3A (R375fs +3 more)	Deletion (frameshift variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 1330229	NM_022552.5(DNMT3A):c.2322+1G>A	DNMT3A	Single nucleotide variant (splice donor variant)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 1324288	NM_022552.5(DNMT3A):c.2173+1G>A	DNMT3A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1194359	NM_022552.5(DNMT3A):c.640-3916G>T	DNMT3A, LOC129933288	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191436	NM_022552.5(DNMT3A):c.492+55G>C	DNMT3A, LOC129933290	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 986959	NM_022552.5(DNMT3A):c.448+1G>A	DNMT3A (G150D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 973007	GRCh37/hg19 2p23.3(chr2:25464105-25581265)	DNMT3A	Copy number loss	Tatton-Brown-Rahman overgrowth syndrome	Gnot provided
Select item 872726	NM_022552.5(DNMT3A):c.1443C>A (p.Tyr481Ter)	DNMT3A (Y292* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 808702	NM_022552.5(DNMT3A):c.58G>A (p.Glu20Lys)	DNMT3A (E20K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 686121	GRCh37/hg19 2p23.3(chr2:25464105-25581265)x1	DNMT3A	Copy number loss	not provided	GPathogenic
Select item 684445	Single allele	DNMT3A	Deletion	Tatton-Brown-Rahman overgrowth syndrome	Gnot provided
Select item 559654	NM_022552.5(DNMT3A):c.2086C>T (p.Gln696Ter)	DNMT3A (Q507* +3 more)	Single nucleotide variant (nonsense +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely pathogenic
Select item 375883	NM_022552.5(DNMT3A):c.2644C>G (p.Arg882Gly)	DNMT3A (R693G +3 more)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 375880	NM_022552.5(DNMT3A):c.2645G>C (p.Arg882Pro)	DNMT3A (R693P +3 more)	Single nucleotide variant (missense variant +1 more)	Myelodysplastic syndrome +2 more	GPathogenic/Likely pathogenic
Select item 375879	NM_022552.5(DNMT3A):c.2645G>T (p.Arg882Leu)	DNMT3A (R693L +3 more)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 208338	NM_022552.5(DNMT3A):c.1204C>T (p.Gln402Ter)	DNMT3A (Q213* +3 more)	Single nucleotide variant (nonsense +1 more)	Early T cell progenitor acute lymphoblastic leukemia	GPathogenic
Select item 133985	NM_022552.5(DNMT3A):c.645G>C (p.Glu215Asp)	DNMT3A (E215D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 133984	NM_022552.5(DNMT3A):c.802G>A (p.Asp268Asn)	DNMT3A (D268N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 44