HAUS1[gene] - ClinVar

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

Search results

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 59960	GRCh38/hg38 18q12.2-21.1(chr18:36859191-47164436)x1	ARK2C, ARK2N +119 more	Copy number loss	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 154629	GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)x1	ARK2C, ARK2N +147 more	Copy number loss	See cases	GPathogenic
Select item 147605	GRCh38/hg38 18q12.3-21.1(chr18:42335174-46726460)x1	ARK2C, ARK2N +74 more	Copy number loss	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 152556	GRCh38/hg38 18q12.3-21.1(chr18:43833480-46144138)x1	LINC01601, LOC110121352 +55 more	Copy number loss	See cases	GPathogenic
Select item 58781	GRCh38/hg38 18q12.3-21.1(chr18:45541699-46697357)x3	ARK2C, ARK2N +35 more	Copy number gain	See cases	GPathogenic
Select item 2361187	NM_138443.4(HAUS1):c.50A>C (p.Lys17Thr)	HAUS1 (K17T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713536	NM_138443.4(HAUS1):c.63T>C (p.Asp21=)	HAUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2265539	NM_138443.4(HAUS1):c.70A>G (p.Ile24Val)	HAUS1 (I24V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298624	NM_138443.4(HAUS1):c.128G>A (p.Arg43His)	HAUS1 (R43H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283517	NM_138443.4(HAUS1):c.135G>C (p.Arg45Ser)	HAUS1 (R45S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283515	NM_138443.4(HAUS1):c.139C>T (p.Arg47Trp)	HAUS1 (R47W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350198	NM_138443.4(HAUS1):c.140G>A (p.Arg47Gln)	HAUS1 (R47Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3357806	NM_138443.4(HAUS1):c.168G>T (p.Glu56Asp)	HAUS1 (E56D)	Single nucleotide variant (missense variant +1 more)	HAUS1-related condition	GUncertain significance
Select item 3104314	NM_138443.4(HAUS1):c.169G>T (p.Asp57Tyr)	HAUS1 (D57Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240547	NM_138443.4(HAUS1):c.272G>A (p.Gly91Asp)	HAUS1 (G91D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542149	NM_138443.4(HAUS1):c.286A>C (p.Asn96His)	HAUS1 (N96H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275770	NM_138443.4(HAUS1):c.392C>A (p.Ser131Tyr)	HAUS1 (S131Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470849	NM_138443.4(HAUS1):c.399T>G (p.Ser133Arg)	HAUS1 (S133R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283519	NM_138443.4(HAUS1):c.478G>A (p.Asp160Asn)	HAUS1 (D160N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104315	NM_138443.4(HAUS1):c.529A>C (p.Asn177His)	HAUS1 (N177H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370910	NM_138443.4(HAUS1):c.533G>A (p.Arg178His)	HAUS1 (R178H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570228	NM_138443.4(HAUS1):c.544A>G (p.Met182Val)	HAUS1 (M182V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523668	NM_138443.4(HAUS1):c.646T>A (p.Ser216Thr)	HAUS1 (S216T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297177	NM_138443.4(HAUS1):c.710A>C (p.Lys237Thr)	HAUS1 (K237T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355318	NM_138443.4(HAUS1):c.718T>C (p.Ser240Pro)	HAUS1 (S240P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283518	NM_138443.4(HAUS1):c.726A>C (p.Leu242Phe)	HAUS1 (L242F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473308	NM_138443.4(HAUS1):c.763A>G (p.Ile255Val)	HAUS1 (I255V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395672	NM_138443.4(HAUS1):c.779G>A (p.Arg260Gln)	HAUS1 (R260Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356263	NM_138443.4(HAUS1):c.805C>G (p.Leu269Val)	HAUS1 (L269V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242804	NC_000018.9:g.(?_42281312)_(45423127_?)del	ARK2C, ARK2N +17 more	Deletion	not provided	GPathogenic
Select item 3063562	GRCh37/hg19 18q12.2-21.1(chr18:36823620-44030870)x1	ARK2C, ARK2N +11 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063545	GRCh37/hg19 18q12.2-21.1(chr18:33793283-46823898)x1	ARK2C, ARK2N +29 more	Copy number loss	not specified	GPathogenic
Select item 2685619	GRCh37/hg19 18q21.1(chr18:43650248-43748424)x1	ATP5F1A, HAUS1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2426180	NC_000018.9:g.(?_42281312)_(44236996_?)del	ARK2C, ARK2N +9 more	Deletion	not provided	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1412018	NC_000018.9:g.(?_42281312)_(45423127_?)dup	SKOR2, SLC14A1 +17 more	Duplication	Vici syndrome +1 more	GUncertain significance
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 816011	GRCh37/hg19 18q12.3-21.1(chr18:41630585-45107905)x1	SLC14A2, EPG5 +16 more	Copy number loss	not provided	GPathogenic
Select item 816010	GRCh37/hg19 18q12.3-21.1(chr18:39800804-44365152)x1	ST8SIA5, RNF165 +12 more	Copy number loss	not provided	GPathogenic
Select item 564568	GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3	ACAA2, ATP5F1A +55 more	Copy number gain	not provided	GPathogenic
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443196	GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3	ACAA2, ADNP2 +150 more	Copy number gain	See cases	GPathogenic
Select item 443117	GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3	TMX3, TNFRSF11A +128 more	Copy number gain	See cases	GPathogenic
Select item 443054	GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3	ARK2C, ARK2N +62 more	Copy number gain	See cases	GLikely benign
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 441853	GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3	ACAA2, ADNP2 +142 more	Copy number gain	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 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: 70