HOOK2[gene] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 153423	GRCh38/hg38 19p13.2-13.13(chr19:12357905-12768046)x1	BEST2, DHPS +57 more	Copy number loss	See cases	GUncertain significance
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 3284608	NM_013312.3(HOOK2):c.2141G>A (p.Arg714His)	HOOK2 (R639H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531976	NM_013312.3(HOOK2):c.2102G>C (p.Arg701Pro)	HOOK2 (R699P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395893	NM_013312.3(HOOK2):c.2083C>T (p.Arg695Trp)	HOOK2 (R695W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525145	NM_013312.3(HOOK2):c.2063A>C (p.Gln688Pro)	HOOK2 (Q613P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303638	NM_013312.3(HOOK2):c.2050C>T (p.Pro684Ser)	HOOK2 (P684S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209598	NM_013312.3(HOOK2):c.2045G>A (p.Arg682Gln)	HOOK2 (R682Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346142	NM_013312.3(HOOK2):c.2030G>A (p.Arg677Gln)	HOOK2 (R677Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774525	NM_013312.3(HOOK2):c.1969G>A (p.Glu657Lys)	HOOK2 (E655K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2569108	NM_013312.3(HOOK2):c.1967G>A (p.Arg656Gln)	HOOK2 (R654Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353575	NM_013312.3(HOOK2):c.1966C>T (p.Arg656Trp)	HOOK2 (R656W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106512	NM_013312.3(HOOK2):c.1922G>A (p.Arg641His)	HOOK2 (R675H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461068	NM_013312.3(HOOK2):c.1921C>T (p.Arg641Cys)	HOOK2 (R566C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324654	NM_013312.3(HOOK2):c.1913G>A (p.Arg638Gln)	HOOK2 (R563Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106510	NM_013312.3(HOOK2):c.1907G>A (p.Arg636Gln)	HOOK2 (R561Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265798	NM_013312.3(HOOK2):c.1838C>T (p.Thr613Ile)	HOOK2 (T613I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395532	NM_013312.3(HOOK2):c.1735A>C (p.Ile579Leu)	HOOK2 (I504L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284610	NM_013312.3(HOOK2):c.1729C>T (p.Arg577Trp)	HOOK2 (R502W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329731	NM_013312.3(HOOK2):c.1633G>A (p.Glu545Lys)	HOOK2 (E543K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374547	NM_013312.3(HOOK2):c.1581G>C (p.Gln527His)	HOOK2 (Q454H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234849	NM_013312.3(HOOK2):c.1556A>G (p.Asp519Gly)	HOOK2 (D446G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615510	NM_013312.3(HOOK2):c.1507C>T (p.His503Tyr)	HOOK2 (H430Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208935	NM_013312.3(HOOK2):c.1507C>A (p.His503Asn)	HOOK2 (H430N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1225367	NM_013312.3(HOOK2):c.1464C>G (p.His488Gln)	HOOK2 (H488Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784829	NM_013312.3(HOOK2):c.1333G>C (p.Val445Leu)	HOOK2 (V445L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2210271	NM_013312.3(HOOK2):c.1243C>T (p.Arg415Trp)	HOOK2 (R415W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545405	NM_013312.3(HOOK2):c.1216C>T (p.Arg406Trp)	HOOK2 (R442W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339676	NM_013312.3(HOOK2):c.1163T>A (p.Phe388Tyr)	HOOK2 (F388Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330789	NM_013312.3(HOOK2):c.1151A>G (p.Glu384Gly)	HOOK2 (E420G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387568	NM_013312.3(HOOK2):c.1127G>A (p.Arg376Gln)	HOOK2 (R412Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106507	NM_013312.3(HOOK2):c.1057C>T (p.Arg353Cys)	HOOK2, LOC130063662 (R353C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106506	NM_013312.3(HOOK2):c.1030C>G (p.Arg344Gly)	HOOK2, LOC130063662 (R380G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620138	NM_013312.3(HOOK2):c.1018G>C (p.Gly340Arg)	HOOK2, LOC130063662 (G267R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106505	NM_013312.3(HOOK2):c.1010G>C (p.Arg337Pro)	HOOK2, LOC130063662 (R337P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493402	NM_013312.3(HOOK2):c.927G>C (p.Gln309His)	HOOK2 (Q236H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284607	NM_013312.3(HOOK2):c.922G>C (p.Gly308Arg)	HOOK2 (G235R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106518	NM_013312.3(HOOK2):c.872A>C (p.Gln291Pro)	HOOK2 (Q291P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106517	NM_013312.3(HOOK2):c.866A>G (p.Glu289Gly)	HOOK2 (E289G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371329	NM_013312.3(HOOK2):c.788G>A (p.Arg263His)	HOOK2 (R299H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544154	NM_013312.3(HOOK2):c.703G>T (p.Ala235Ser)	HOOK2 (A162S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363106	NM_013312.3(HOOK2):c.671G>A (p.Arg224Gln)	HOOK2 (R224Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2266188	NM_013312.3(HOOK2):c.671G>C (p.Arg224Pro)	HOOK2 (R260P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609247	NM_013312.3(HOOK2):c.656G>A (p.Arg219Gln)	HOOK2 (R219Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106515	NM_013312.3(HOOK2):c.635C>T (p.Ala212Val)	HOOK2 (A212V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316437	NM_013312.3(HOOK2):c.524G>A (p.Arg175His)	HOOK2 (R102H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770807	NM_013312.3(HOOK2):c.519+7G>T	HOOK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2365837	NM_013312.3(HOOK2):c.500A>G (p.Tyr167Cys)	HOOK2 (Y167C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465583	NM_013312.3(HOOK2):c.475C>T (p.Pro159Ser)	HOOK2 (P86S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477055	NM_013312.3(HOOK2):c.470A>G (p.Asp157Gly)	HOOK2 (D157G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106514	NM_013312.3(HOOK2):c.422C>T (p.Ser141Leu)	HOOK2 (S141L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588967	NM_013312.3(HOOK2):c.376G>A (p.Glu126Lys)	HOOK2 (E126K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386163	NM_013312.3(HOOK2):c.335G>T (p.Gly112Val)	HOOK2 (G148V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106513	NM_013312.3(HOOK2):c.202A>C (p.Lys68Gln)	HOOK2 (K68Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106511	NM_013312.3(HOOK2):c.191A>G (p.Asn64Ser)	HOOK2 (N64S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547027	NM_013312.3(HOOK2):c.184G>A (p.Gly62Ser)	HOOK2 (G62S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284609	NM_013312.3(HOOK2):c.173C>T (p.Ser58Leu)	HOOK2 (S58L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106508	NM_013312.3(HOOK2):c.149A>G (p.Asn50Ser)	HOOK2 (N50S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285628	NM_013312.3(HOOK2):c.133G>A (p.Asp45Asn)	HOOK2 (D45N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106519	NM_013312.3(HOOK2):c.91C>G (p.Leu31Val)	HOOK2 (L31V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544955	NM_013312.3(HOOK2):c.75T>G (p.Cys25Trp)	HOOK2 (C25W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383577	NM_013312.3(HOOK2):c.51G>C (p.Gln17His)	HOOK2 (Q17H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112560	NM_002229.3(JUNB):c.26T>C (p.Phe9Ser)	HOOK2, JUNB +1 more (F9S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529796	NM_002229.3(JUNB):c.39C>A (p.Asp13Glu)	HOOK2, JUNB (D13E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287280	NM_002229.3(JUNB):c.164C>A (p.Ala55Asp)	HOOK2, JUNB (A55D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378182	NM_002229.3(JUNB):c.200G>C (p.Ser67Thr)	HOOK2, JUNB (S67T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112559	NM_002229.3(JUNB):c.238C>T (p.Leu80Phe)	HOOK2, JUNB (L80F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547032	NM_002229.3(JUNB):c.454G>T (p.Val152Leu)	HOOK2, JUNB +1 more (V152L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287278	NM_002229.3(JUNB):c.481G>A (p.Ala161Thr)	HOOK2, JUNB +1 more (A161T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287281	NM_002229.3(JUNB):c.482C>T (p.Ala161Val)	HOOK2, JUNB +1 more (A161V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287277	NM_002229.3(JUNB):c.493C>G (p.Pro165Ala)	HOOK2, JUNB +1 more (P165A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287279	NM_002229.3(JUNB):c.505C>T (p.Pro169Ser)	HOOK2, JUNB +1 more (P169S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622294	NM_002229.3(JUNB):c.508G>A (p.Gly170Arg)	HOOK2, JUNB +1 more (G170R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248506	NC_000019.9:g.(?_12757434)_(13387962_?)dup	BEST2, CACNA1A +29 more	Duplication	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 3248501	NC_000019.9:g.(?_12651855)_(13373667_?)del	BEST2, CACNA1A +32 more	Deletion	Episodic ataxia type 2 +1 more	GPathogenic
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2684885	GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3	BEST2, CACNA1A +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GUncertain significance
Select item 1457169	NC_000019.9:g.(?_12757434)_(13617038_?)del	BEST2, CACNA1A +29 more	Deletion	Developmental and epileptic encephalopathy, 42 +3 more	GPathogenic
Select item 1341175	GRCh37/hg19 19p13.2-13.12(chr19:12697728-14111313)x1	BEST2, BRME1 +45 more	Copy number loss	not provided	GPathogenic
Select item 685830	GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1	BEST2, CACNA1A +38 more	Copy number loss	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 395272	GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1	BEST2, CACNA1A +41 more	Copy number loss	See cases	GPathogenic

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Items: 95