EHMT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	LOC130003073, LOC130003074 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130002603, LOC130002604 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MIR3621, MIR3689A +789 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC112637025, LOC112639999 +656 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003086, LOC130003087 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	ABCA2, ADAMTSL2 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	LOC130003003, LOC130003004 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	ABCA2, AGPAT2 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	LOC130003068, LOC130003069 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	ABCA2, AGPAT2 +371 more	Copy number loss	See cases	GPathogenic
Select item 155327	GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	LOC126860789, LOC126860790 +324 more	Copy number gain	See cases	GLikely pathogenic
Select item 161082	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	ABCA2, AGPAT2 +283 more	Copy number loss	See cases	GPathogenic
Select item 57416	GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1	ABCA2, AGPAT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 34625	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	ABCA2, AGPAT2 +283 more	Copy number loss	See cases	GPathogenic
Select item 154911	GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1	LOC108254695, LOC108281113 +176 more	Copy number loss	See cases	GPathogenic
Select item 59140	GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1	ABCA2, ANAPC2 +166 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 155260	GRCh38/hg38 9q34.3(chr9:137345965-138159083)x1	ARRDC1, ARRDC1-AS1 +67 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 151395	GRCh38/hg38 9q34.3(chr9:137372891-137757091)x3	ARRDC1, ARRDC1-AS1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 147707	GRCh38/hg38 9q34.3(chr9:137391682-138114463)x3	ARRDC1, ARRDC1-AS1 +66 more	Copy number gain	See cases	GPathogenic
Select item 446701	GRCh38/hg38 9q34.3(chr9:137484248-137696525)x3	ARRDC1, ARRDC1-AS1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 59152	GRCh38/hg38 9q34.3(chr9:137484248-138179445)x1	ARRDC1, ARRDC1-AS1 +49 more	Copy number loss	See cases	GPathogenic
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 627648	NC_000009.12:g.137604238_138131469dup	ARRDC1, ARRDC1-AS1 +33 more	Duplication	9q34 microduplication syndrome	GPathogenic
Select item 1208625	NR_122035.1(ARRDC1-AS1):n.142G>T	ARRDC1-AS1, EHMT1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1259050	NR_122035.1(ARRDC1-AS1):n.1T>C	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	EHMT1, LOC130003135	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 1094639	NM_024757.5(EHMT1):c.1A>G (p.Met1Val)	EHMT1, LOC130003135 (M1V)	Single nucleotide variant (missense variant +2 more)	Kleefstra syndrome 1	GLikely benign
Select item 1021030	NM_024757.5(EHMT1):c.2T>G (p.Met1Arg)	EHMT1, LOC130003135 (M1R)	Single nucleotide variant (missense variant +2 more)	Kleefstra syndrome 1	GUncertain significance
Select item 2771622	NM_024757.5(EHMT1):c.3G>A (p.Met1Ile)	EHMT1, LOC130003135 (M1I)	Single nucleotide variant (missense variant +2 more)	Kleefstra syndrome 1	GUncertain significance
Select item 573983	NM_024757.5(EHMT1):c.13_21+153del	EHMT1, LOC130003135	Deletion (splice donor variant)	Kleefstra syndrome 1	GLikely pathogenic
Select item 2753494	NM_024757.5(EHMT1):c.5C>T (p.Ala2Val)	EHMT1, LOC130003135 (A2V)	Single nucleotide variant (missense variant +1 more)	Kleefstra syndrome 1	GUncertain significance
Select item 2875184	NM_024757.5(EHMT1):c.6C>T (p.Ala2=)	EHMT1, LOC130003135	Single nucleotide variant (synonymous variant +1 more)	Kleefstra syndrome 1	GLikely benign
Select item 1427298	NM_024757.5(EHMT1):c.7G>A (p.Ala3Thr)	EHMT1, LOC130003135 (A3T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1059795	NM_024757.5(EHMT1):c.9C>A (p.Ala3=)	EHMT1, LOC130003135	Single nucleotide variant (synonymous variant +1 more)	Kleefstra syndrome 1	GLikely benign
Select item 2193779	NM_024757.5(EHMT1):c.12C>G (p.Ala4=)	EHMT1, LOC130003135	Single nucleotide variant (synonymous variant +1 more)	Kleefstra syndrome 1	GBenign
Select item 940094	NM_024757.5(EHMT1):c.12C>A (p.Ala4=)	LOC130003135, EHMT1	Single nucleotide variant (synonymous variant +1 more)	Kleefstra syndrome 1	GLikely benign
Select item 2178354	NM_024757.5(EHMT1):c.13G>T (p.Asp5Tyr)	EHMT1, LOC130003135 (D5Y)	Single nucleotide variant (missense variant +1 more)	Kleefstra syndrome 1	GBenign
Select item 1204537	NM_024757.5(EHMT1):c.13G>A (p.Asp5Asn)	EHMT1, LOC130003135 (D5N)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2043325	NM_024757.5(EHMT1):c.14A>G (p.Asp5Gly)	EHMT1, LOC130003135 (D5G)	Single nucleotide variant (5 prime UTR variant +1 more)	Kleefstra syndrome 1	GUncertain significance
Select item 2231142	NM_024757.5(EHMT1):c.16G>C (p.Ala6Pro)	EHMT1, LOC130003135 (A6P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1508319	NM_024757.5(EHMT1):c.17C>T (p.Ala6Val)	EHMT1, LOC130003135 (A6V)	Single nucleotide variant (missense variant +1 more)	Kleefstra syndrome 1	GUncertain significance
Select item 2985003	NM_024757.5(EHMT1):c.18C>T (p.Ala6=)	EHMT1, LOC130003135	Single nucleotide variant (synonymous variant +1 more)	Kleefstra syndrome 1	GLikely benign
Select item 2817751	NM_024757.5(EHMT1):c.18C>G (p.Ala6=)	EHMT1, LOC130003135	Single nucleotide variant (synonymous variant +1 more)	Kleefstra syndrome 1	GLikely benign
Select item 2740423	NM_024757.5(EHMT1):c.19G>A (p.Glu7Lys)	EHMT1, LOC130003135 (E7K)	Single nucleotide variant (missense variant +1 more)	Kleefstra syndrome 1	GUncertain significance
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 974820	NM_024757.5(EHMT1):c.21+1_21+5del	EHMT1, LOC130003135	Deletion (splice donor variant)	Kleefstra syndrome 1	GLikely pathogenic
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 1397528	NM_024757.5(EHMT1):c.21+3G>T	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GUncertain significance
Select item 2834303	NM_024757.5(EHMT1):c.21+5G>C	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GBenign
Select item 1701588	NM_024757.5(EHMT1):c.21+6C>T	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2733797	NM_024757.5(EHMT1):c.21+7A>C	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 1673121	NM_024757.5(EHMT1):c.21+7_21+12del	EHMT1, LOC130003135	Deletion (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 1097641	NM_024757.5(EHMT1):c.21+14_21+22dup	EHMT1, LOC130003135	Duplication (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2784656	NM_024757.5(EHMT1):c.21+8G>T	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 738338	NM_024757.5(EHMT1):c.21+8G>A	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 1950873	NM_024757.5(EHMT1):c.21+14_21+23dup	EHMT1, LOC130003135	Duplication (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 1115118	NM_024757.5(EHMT1):c.21+9C>T	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2918440	NM_024757.5(EHMT1):c.21+10G>A	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 531867	NM_024757.5(EHMT1):c.21+10G>C	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2831910	NM_024757.5(EHMT1):c.21+13G>A	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2995686	NM_024757.5(EHMT1):c.21+15del	EHMT1, LOC130003135	Deletion (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2158393	NM_024757.5(EHMT1):c.21+14C>T	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 1673122	NM_024757.5(EHMT1):c.21+14C>G	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2144070	NM_024757.5(EHMT1):c.21+15C>A	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2101954	NM_024757.5(EHMT1):c.21+15C>G	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 1674102	NM_024757.5(EHMT1):c.21+21_21+38dup	EHMT1, LOC130003135	Duplication (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 1671455	NM_024757.5(EHMT1):c.21+22_21+42del	EHMT1, LOC130003135	Deletion (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2718810	NM_024757.5(EHMT1):c.21+18C>G	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 2126678	NM_024757.5(EHMT1):c.21+24dup	EHMT1, LOC130003135	Duplication (intron variant)	Kleefstra syndrome 1	GBenign
Select item 1629140	NM_024757.5(EHMT1):c.21+18C>T	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GBenign
Select item 1912112	NM_024757.5(EHMT1):c.21+24del	EHMT1, LOC130003135	Deletion (intron variant)	Kleefstra syndrome 1	GBenign
Select item 1596148	NM_024757.5(EHMT1):c.21+19G>C	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 1160712	NM_024757.5(EHMT1):c.21+30_21+40dup	EHMT1, LOC130003135	Duplication (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 1673198	NM_024757.5(EHMT1):c.21+30_21+40del	EHMT1, LOC130003135	Deletion (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 1654126	NM_024757.5(EHMT1):c.21+20G>C	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
Select item 1624241	NM_024757.5(EHMT1):c.21+20G>T	EHMT1, LOC130003135	Single nucleotide variant (intron variant)	Kleefstra syndrome 1	GLikely benign
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 59944	GRCh38/hg38 9q34.3(chr9:137640712-137892491)x3	CACNA1B, EHMT1 +21 more	Copy number gain	See cases	GPathogenic
Select item 148061	GRCh38/hg38 9q34.3(chr9:137656456-137862670)x3	EHMT1, LOC108281115 +17 more	Copy number gain	See cases	GUncertain significance
Select item 1341714	NC_000009.12:g.137661384_137714409del	EHMT1, LOC124375254 +2 more	Deletion	Kleefstra syndrome 1	GLikely pathogenic
Select item 2659831	NM_024757.5(EHMT1):c.22-43600_22-43598del	EHMT1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1293386	NM_024757.5(EHMT1):c.22-217A>G	EHMT1	Single nucleotide variant (intron variant)	not provided	GBenign

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