HOOK1[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +421 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	AK4, ALG6 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC132088736, LOC132088737 +557 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +275 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	LOC126805749, LOC126805750 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	LOC129930732, LOC129930733 +269 more	Copy number loss	See cases	GPathogenic
Select item 2386670	NM_015888.6(HOOK1):c.17C>T (p.Pro6Leu)	HOOK1 (P6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638849	NM_015888.6(HOOK1):c.54C>T (p.Leu18=)	HOOK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2588980	NM_015888.6(HOOK1):c.77A>G (p.Asn26Ser)	HOOK1 (N26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106500	NM_015888.6(HOOK1):c.223G>A (p.Ala75Thr)	HOOK1 (A75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491678	NM_015888.6(HOOK1):c.278T>G (p.Leu93Trp)	HOOK1 (L93W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366820	NM_015888.6(HOOK1):c.367C>T (p.Leu123Phe)	HOOK1 (L123F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106501	NM_015888.6(HOOK1):c.403C>G (p.Gln135Glu)	HOOK1 (Q135E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323582	NM_015888.6(HOOK1):c.509A>T (p.Asn170Ile)	HOOK1 (N170I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538172	NM_015888.6(HOOK1):c.628A>G (p.Thr210Ala)	HOOK1 (T210A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2479205	NM_015888.6(HOOK1):c.661G>A (p.Glu221Lys)	HOOK1 (E221K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398355	NM_015888.6(HOOK1):c.666T>G (p.Asn222Lys)	HOOK1 (N222K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106502	NM_015888.6(HOOK1):c.682A>G (p.Lys228Glu)	HOOK1 (K228E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330278	NM_015888.6(HOOK1):c.699T>A (p.Asp233Glu)	HOOK1 (D233E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106503	NM_015888.6(HOOK1):c.863G>C (p.Arg288Thr)	HOOK1 (R288T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236890	NM_015888.6(HOOK1):c.895A>G (p.Thr299Ala)	HOOK1 (T299A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106504	NM_015888.6(HOOK1):c.920A>T (p.Asp307Val)	HOOK1 (D307V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106493	NM_015888.6(HOOK1):c.1099G>T (p.Ala367Ser)	HOOK1 (A367S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357876	NM_015888.6(HOOK1):c.1102C>T (p.Arg368Cys)	HOOK1 (R368C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315828	NM_015888.6(HOOK1):c.1168A>C (p.Lys390Gln)	HOOK1 (K390Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406812	NM_015888.6(HOOK1):c.1211A>G (p.Glu404Gly)	HOOK1 (E404G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615133	NM_015888.6(HOOK1):c.1313A>C (p.Asp438Ala)	HOOK1 (D438A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393427	NM_015888.6(HOOK1):c.1432C>T (p.Arg478Cys)	HOOK1 (R478C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106494	NM_015888.6(HOOK1):c.1454A>T (p.Glu485Val)	HOOK1 (E485V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106495	NM_015888.6(HOOK1):c.1463G>A (p.Arg488His)	HOOK1 (R488H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106496	NM_015888.6(HOOK1):c.1502G>A (p.Arg501His)	HOOK1 (R501H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390312	NM_015888.6(HOOK1):c.1508T>C (p.Met503Thr)	HOOK1 (M503T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545173	NM_015888.6(HOOK1):c.1607C>G (p.Ser536Cys)	HOOK1 (S536C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106497	NM_015888.6(HOOK1):c.1625G>C (p.Ser542Thr)	HOOK1 (S542T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362624	NM_015888.6(HOOK1):c.1627T>C (p.Ser543Pro)	HOOK1 (S543P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555833	NM_015888.6(HOOK1):c.1672A>G (p.Thr558Ala)	HOOK1 (T558A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218316	NM_015888.6(HOOK1):c.1754T>C (p.Ile585Thr)	HOOK1 (I585T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106498	NM_015888.6(HOOK1):c.1805T>C (p.Met602Thr)	HOOK1 (M602T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471856	NM_015888.6(HOOK1):c.1855A>G (p.Thr619Ala)	HOOK1 (T619A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209218	NM_015888.6(HOOK1):c.1936G>C (p.Glu646Gln)	HOOK1 (E646Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 59358	GRCh38/hg38 1p32.1-31.3(chr1:59871038-62029355)x1	C1orf87, CYP2J2 +32 more	Copy number loss	See cases	GUncertain significance
Select item 2355512	NM_015888.6(HOOK1):c.1957A>G (p.Lys653Glu)	HOOK1 (K653E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296302	NM_015888.6(HOOK1):c.2011A>C (p.Asn671His)	HOOK1 (N671H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458265	NM_015888.6(HOOK1):c.2018G>A (p.Ser673Asn)	HOOK1 (S673N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455230	NM_015888.6(HOOK1):c.2062G>A (p.Gly688Ser)	HOOK1 (G688S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2529386	NM_015888.6(HOOK1):c.2102C>T (p.Ala701Val)	HOOK1 (A701V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297831	NM_015888.6(HOOK1):c.2104C>T (p.Arg702Trp)	HOOK1 (R702W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337712	NM_015888.6(HOOK1):c.2105G>A (p.Arg702Gln)	HOOK1 (R702Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511971	NM_015888.6(HOOK1):c.2131A>G (p.Ile711Val)	HOOK1 (I711V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063410	GRCh37/hg19 1p32.1-31.3(chr1:59121165-62057570)x1	C1orf87, CYP2J2 +5 more	Copy number loss	not specified	GPathogenic
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	L1TD1, LDLRAD1 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 666427	Single allele	ROR1, RPE65 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 221778	GRCh37/hg19 1p32.1(chr1:59891821-61162222)x3	C1orf87, CYP2J2 +2 more	Copy number gain	Premature ovarian failure	GUncertain significance

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Items: 60