ENTHD1[gene] - ClinVar

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

Search results

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 2351159	NM_152512.4(ENTHD1):c.1804G>T (p.Gly602Trp)	ENTHD1 (G602W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275523	NM_152512.4(ENTHD1):c.1780T>C (p.Ser594Pro)	ENTHD1 (S594P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275520	NM_152512.4(ENTHD1):c.1685T>C (p.Leu562Ser)	ENTHD1 (L562S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089051	NM_152512.4(ENTHD1):c.1669C>T (p.Arg557Cys)	ENTHD1 (R557C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3275518	NM_152512.4(ENTHD1):c.1635G>T (p.Lys545Asn)	ENTHD1 (K545N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2491188	NM_152512.4(ENTHD1):c.1481T>C (p.Leu494Pro)	ENTHD1 (L494P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375777	NM_152512.4(ENTHD1):c.1466A>G (p.Asn489Ser)	ENTHD1 (N489S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536356	NM_152512.4(ENTHD1):c.1394C>T (p.Thr465Ile)	ENTHD1 (T465I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475181	NM_152512.4(ENTHD1):c.1217G>A (p.Arg406Gln)	ENTHD1 (R406Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2366008	NM_152512.4(ENTHD1):c.1216C>T (p.Arg406Trp)	ENTHD1 (R406W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3089050	NM_152512.4(ENTHD1):c.1154C>G (p.Ala385Gly)	ENTHD1 (A385G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275519	NM_152512.4(ENTHD1):c.1137G>T (p.Glu379Asp)	ENTHD1 (E379D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089049	NM_152512.4(ENTHD1):c.1067T>G (p.Phe356Cys)	ENTHD1 (F356C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304290	NM_152512.4(ENTHD1):c.1032C>A (p.Ser344Arg)	ENTHD1 (S344R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603230	NM_152512.4(ENTHD1):c.991A>G (p.Ile331Val)	ENTHD1 (I331V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454461	NM_152512.4(ENTHD1):c.956A>T (p.Lys319Met)	ENTHD1 (K319M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275522	NM_152512.4(ENTHD1):c.908T>C (p.Ile303Thr)	ENTHD1 (I303T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2487878	NM_152512.4(ENTHD1):c.827G>C (p.Gly276Ala)	ENTHD1 (G276A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275517	NM_152512.4(ENTHD1):c.824C>T (p.Ser275Leu)	ENTHD1 (S275L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392526	NM_152512.4(ENTHD1):c.808G>A (p.Glu270Lys)	ENTHD1 (E270K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348402	NM_152512.4(ENTHD1):c.807A>C (p.Glu269Asp)	ENTHD1 (E269D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294506	NM_152512.4(ENTHD1):c.584A>G (p.His195Arg)	ENTHD1 (H195R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2559295	NM_152512.4(ENTHD1):c.511T>C (p.Cys171Arg)	ENTHD1 (C171R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3275524	NM_152512.4(ENTHD1):c.431C>G (p.Ala144Gly)	ENTHD1 (A144G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283936	NM_152512.4(ENTHD1):c.422G>T (p.Arg141Met)	ENTHD1 (R141M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089052	NM_152512.4(ENTHD1):c.361C>T (p.Arg121Trp)	ENTHD1 (R121W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401124	NM_152512.4(ENTHD1):c.334G>T (p.Ala112Ser)	ENTHD1 (A112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325964	NM_152512.4(ENTHD1):c.303A>T (p.Gln101His)	ENTHD1 (Q101H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507437	NM_152512.4(ENTHD1):c.295A>C (p.Asn99His)	ENTHD1 (N99H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315587	NM_152512.4(ENTHD1):c.278G>T (p.Cys93Phe)	ENTHD1 (C93F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533622	NM_152512.4(ENTHD1):c.271C>G (p.Gln91Glu)	ENTHD1 (Q91E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302444	NM_152512.4(ENTHD1):c.199A>G (p.Asn67Asp)	ENTHD1 (N67D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297321	NM_152512.4(ENTHD1):c.116A>G (p.Asp39Gly)	ENTHD1 (D39G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247180	NM_152512.4(ENTHD1):c.110T>C (p.Met37Thr)	ENTHD1 (M37T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397226	NM_152512.4(ENTHD1):c.109A>C (p.Met37Leu)	ENTHD1 (M37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247951	NC_000022.10:g.(?_39306081)_(41904073_?)dup	ACO2, ADSL +42 more	Duplication	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3062459	GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1	ADSL, CACNA1I +18 more	Copy number loss	not specified	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2685678	GRCh37/hg19 22q13.1(chr22:40283084-40377180)x1	ENTHD1, GRAP2	Copy number loss	not provided	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1809336	GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3	ACO2, ADSL +29 more	Copy number gain	not provided	GUncertain significance
Select item 1808635	GRCh37/hg19 22q13.1-13.2(chr22:40131240-41556564)x1	ADSL, DNAJB7 +12 more	Copy number loss	not provided	GPathogenic
Select item 1408743	NC_000022.10:g.(?_39621728)_(41077932_?)dup	ADSL, ATF4 +19 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 564981	GRCh37/hg19 22q13.1(chr22:40191256-40308683)x1	GRAP2, ENTHD1	Copy number loss	not provided	GUncertain significance
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 57