"GeneDx"[submitter] AND "EHMT1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 59151	GRCh38/hg38 9q34.3(chr9:137215877-137830604)x1	ARRDC1, ARRDC1-AS1 +92 more	Copy number loss	See cases	GPathogenic
Select item 59141	GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1	LOC130003144, LOC130003145 +101 more	Copy number loss	See cases	GPathogenic
Select item 59091	GRCh38/hg38 9q34.3(chr9:137345965-137640771)x1	ARRDC1, ARRDC1-AS1 +41 more	Copy number loss	See cases	GUncertain significance
Select item 59153	GRCh38/hg38 9q34.3(chr9:137514943-138121473)x1	ARRDC1, ARRDC1-AS1 +46 more	Copy number loss	See cases	GPathogenic
Select item 59155	GRCh38/hg38 9q34.3(chr9:137598355-138091769)x1	LOC130003141, LOC130003142 +33 more	Copy number loss	See cases	GPathogenic
Select item 1208625	NC_000009.12:g.137618754C>A	ARRDC1-AS1, EHMT1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1259050	NC_000009.12:g.137618895A>G	ARRDC1-AS1, EHMT1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 2579604	NM_024757.5(EHMT1):c.-5G>C	EHMT1, LOC130003135	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1751006	NM_024757.5(EHMT1):c.-5G>A	LOC130003135, EHMT1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 1311167	NM_024757.5(EHMT1):c.-1C>A	EHMT1, LOC130003135	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1427298	NM_024757.5(EHMT1):c.7G>A (p.Ala3Thr)	EHMT1, LOC130003135 (A3T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1204537	NM_024757.5(EHMT1):c.13G>A (p.Asp5Asn)	EHMT1, LOC130003135 (D5N)	Single nucleotide variant (missense variant +1 more)	Kleefstra syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1704835	NM_024757.5(EHMT1):c.19G>C (p.Glu7Gln)	EHMT1, LOC130003135 (E7Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1800762	NM_024757.5(EHMT1):c.20A>T (p.Glu7Val)	EHMT1, LOC130003135 (E7V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1706137	NM_024757.5(EHMT1):c.21+202G>A	EHMT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 59156	GRCh38/hg38 9q34.3(chr9:137620211-137958459)x1	CACNA1B, CACNA1B-AS1 +24 more	Copy number loss	See cases	GPathogenic
Select item 1293386	NM_024757.5(EHMT1):c.22-217A>G	EHMT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292360	NM_024757.5(EHMT1):c.22-85T>C	EHMT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293363	NM_024757.5(EHMT1):c.22-64A>C	EHMT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201117	NM_024757.5(EHMT1):c.22-45G>A	EHMT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239932	NM_024757.5(EHMT1):c.22-37C>G	EHMT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201994	NM_024757.5(EHMT1):c.22-23C>T	EHMT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 764164	NM_024757.5(EHMT1):c.30G>A (p.Pro10=)	EHMT1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 287198	NM_024757.5(EHMT1):c.32C>T (p.Ala11Val)	EHMT1 (A11V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 852882	NM_024757.5(EHMT1):c.40dup (p.Glu14fs)	EHMT1 (E14fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1457053	NM_024757.5(EHMT1):c.40del (p.Glu14fs)	EHMT1 (E14fs)	Deletion (frameshift variant +1 more)	Kleefstra syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 195381	NM_024757.5(EHMT1):c.35G>C (p.Arg12Thr)	EHMT1 (R12T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 531852	NM_024757.5(EHMT1):c.38G>A (p.Gly13Glu)	EHMT1 (G13E)	Single nucleotide variant (missense variant +1 more)	Kleefstra syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 943495	NM_024757.5(EHMT1):c.44C>T (p.Pro15Leu)	EHMT1 (P15L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3343090	NM_024757.5(EHMT1):c.56G>T (p.Cys19Phe)	EHMT1 (C19F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 195380	NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys)	EHMT1 (E24K)	Single nucleotide variant (missense variant +1 more)	Kleefstra syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 946788	NM_024757.5(EHMT1):c.82G>C (p.Glu28Gln)	EHMT1 (E28Q)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1312834	NM_024757.5(EHMT1):c.85+5G>A	EHMT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1244125	NM_024757.5(EHMT1):c.85+35G>A	EHMT1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1262205	NM_024757.5(EHMT1):c.85+194G>A	EHMT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266149	NM_024757.5(EHMT1):c.86-27C>G	EHMT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 196525	NM_024757.5(EHMT1):c.86-5G>A	EHMT1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1360999	NM_024757.5(EHMT1):c.94A>G (p.Met32Val)	EHMT1 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 937088	NM_024757.5(EHMT1):c.97G>T (p.Ala33Ser)	EHMT1 (A2S +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +2 more	GLikely benign
Select item 1301186	NM_024757.5(EHMT1):c.101C>T (p.Ala34Val)	EHMT1 (A34V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1513473	NM_024757.5(EHMT1):c.105T>G (p.Asp35Glu)	EHMT1 (D4E +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +1 more	GUncertain significance
Select item 96139	NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly)	EHMT1 (A43G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign
Select item 96140	NM_024757.5(EHMT1):c.129A>T (p.Ala43=)	EHMT1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 773975	NM_024757.5(EHMT1):c.142A>G (p.Met48Val)	EHMT1 (M17V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 128976	NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr)	EHMT1 (A50T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 660553	NM_024757.5(EHMT1):c.149C>T (p.Ala50Val)	EHMT1 (A19V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 365990	NM_024757.5(EHMT1):c.150G>A (p.Ala50=)	EHMT1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 365991	NM_024757.5(EHMT1):c.153C>T (p.Asp51=)	EHMT1	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 1 +1 more	GLikely benign
Select item 210917	NM_024757.5(EHMT1):c.159G>T (p.Glu53Asp)	EHMT1 (E53D +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 957424	NM_024757.5(EHMT1):c.164A>G (p.Asn55Ser)	EHMT1 (N24S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 504382	NM_024757.5(EHMT1):c.181_190delinsCCATT (p.Ser61fs)	EHMT1 (S30fs +1 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 577400	NM_024757.5(EHMT1):c.184G>A (p.Asp62Asn)	EHMT1 (D62N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1627780	NM_024757.5(EHMT1):c.188C>G (p.Ala63Gly)	EHMT1 (A32G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3252198	NM_024757.5(EHMT1):c.193A>G (p.Ser65Gly)	EHMT1 (S34G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1001649	NM_024757.5(EHMT1):c.199G>C (p.Ala67Pro)	EHMT1 (A36P +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1314614	NM_024757.5(EHMT1):c.200C>G (p.Ala67Gly)	EHMT1 (A36G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 462981	NM_024757.5(EHMT1):c.204T>C (p.Asn68=)	EHMT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 575845	NM_024757.5(EHMT1):c.220C>G (p.Gln74Glu)	EHMT1 (Q74E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 588699	NM_024757.5(EHMT1):c.239A>T (p.Asn80Ile)	EHMT1 (N80I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 531864	NM_024757.5(EHMT1):c.240C>T (p.Asn80=)	EHMT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 365992	NM_024757.5(EHMT1):c.251G>A (p.Gly84Asp)	EHMT1 (G84D +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1035080	NM_024757.5(EHMT1):c.260C>G (p.Thr87Arg)	EHMT1 (T56R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 284403	NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu)	EHMT1 (I91L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 653776	NM_024757.5(EHMT1):c.290C>T (p.Ser97Leu)	EHMT1 (S97L +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +1 more	GLikely benign
Select item 1675275	NM_024757.5(EHMT1):c.298G>C (p.Asp100His)	EHMT1 (D100H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196523	NM_024757.5(EHMT1):c.298G>A (p.Asp100Asn)	EHMT1 (D100N +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 426692	NM_024757.5(EHMT1):c.302C>G (p.Ser101Ter)	EHMT1 (S101* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 462992	NM_024757.5(EHMT1):c.311C>T (p.Ala104Val)	EHMT1 (A104V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 128981	NM_024757.5(EHMT1):c.316C>G (p.Gln106Glu)	EHMT1 (Q106E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 833686	NM_024757.5(EHMT1):c.325G>A (p.Val109Ile)	EHMT1 (V109I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2573903	NM_024757.5(EHMT1):c.353C>G (p.Ser118Cys)	EHMT1 (S118C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96158	NM_024757.5(EHMT1):c.354T>G (p.Ser118=)	EHMT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 3343074	NM_024757.5(EHMT1):c.355G>C (p.Val119Leu)	EHMT1 (V119L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 419249	NM_024757.5(EHMT1):c.355del (p.Val119fs)	EHMT1 (V88fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 862279	NM_024757.5(EHMT1):c.361G>A (p.Gly121Ser)	EHMT1 (G90S +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +1 more	GLikely benign
Select item 365994	NM_024757.5(EHMT1):c.363C>T (p.Gly121=)	EHMT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1327713	NM_024757.5(EHMT1):c.365G>T (p.Ser122Ile)	EHMT1 (S122I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 589559	NM_024757.5(EHMT1):c.369C>T (p.Asn123=)	EHMT1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 462998	NM_024757.5(EHMT1):c.390G>T (p.Pro130=)	EHMT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3366265	NM_024757.5(EHMT1):c.391G>A (p.Ala131Thr)	EHMT1 (A100T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1580642	NM_024757.5(EHMT1):c.391G>C (p.Ala131Pro)	EHMT1 (A100P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2442427	NM_024757.5(EHMT1):c.401C>T (p.Ala134Val)	EHMT1 (A103V +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +1 more	GUncertain significance
Select item 429991	NM_024757.5(EHMT1):c.417dup (p.Thr140fs)	EHMT1 (T140fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1963544	NM_024757.5(EHMT1):c.425C>T (p.Thr142Ile)	EHMT1 (T111I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2579958	NM_024757.5(EHMT1):c.427C>G (p.Leu143Val)	EHMT1 (L112V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96162	NM_024757.5(EHMT1):c.432C>T (p.Ala144=)	EHMT1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 65738	NM_024757.5(EHMT1):c.444T>C (p.Pro148=)	EHMT1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1699820	NM_024757.5(EHMT1):c.461C>A (p.Thr154Asn)	EHMT1 (T123N +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +1 more	GUncertain significance
Select item 167034	NM_024757.5(EHMT1):c.480C>T (p.Gly160=)	EHMT1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1037956	NM_024757.5(EHMT1):c.485G>T (p.Gly162Val)	EHMT1 (G131V +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1187880	NM_024757.5(EHMT1):c.494C>A (p.Pro165Gln)	EHMT1 (P134Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1186846	NM_024757.5(EHMT1):c.494C>T (p.Pro165Leu)	EHMT1 (P134L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313028	NM_024757.5(EHMT1):c.497G>A (p.Ser166Asn)	EHMT1 (S135N +1 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 952285	NM_024757.5(EHMT1):c.505C>T (p.Pro169Ser)	EHMT1 (P138S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 489033	NM_024757.5(EHMT1):c.508C>T (p.Gln170Ter)	EHMT1 (Q170* +1 more)	Single nucleotide variant (nonsense)	Kleefstra syndrome 1 +1 more	GPathogenic
Select item 1104294	NM_024757.5(EHMT1):c.513G>A (p.Thr171=)	EHMT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 588083	NM_024757.5(EHMT1):c.525A>T (p.Pro175=)	EHMT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 128982	NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser)	EHMT1 (P176S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign

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