HINT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 153595	GRCh38/hg38 5q23.3(chr5:130803575-131187009)x1	HINT1, LOC123497966 +5 more	Copy number loss	See cases	GLikely benign
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 659597	NC_000005.10:g.(?_131159273)_(131165358_?)del	HINT1	Deletion	Autosomal recessive axonal neuropathy with neuromyotonia	GPathogenic
Select item 646953	NC_000005.9:g.(?_130494966)_(130501051_?)dup	HINT1	Duplication	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 543794	NC_000005.10:g.(?_131159427)_(131165225_?)del	HINT1	Deletion	Autosomal recessive axonal neuropathy with neuromyotonia	GPathogenic
Select item 382764	NM_005340.7(HINT1):c.*13G>T	HINT1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2802562	NM_005340.7(HINT1):c.378T>A (p.Gly126=)	HINT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GLikely benign
Select item 1057165	NM_005340.7(HINT1):c.375del (p.Gly126fs)	HINT1 (G126fs)	Deletion (frameshift variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 1501549	NM_005340.7(HINT1):c.369G>A (p.Trp123Ter)	HINT1 (W123*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 637254	NM_005340.7(HINT1):c.368G>A (p.Trp123Ter)	HINT1 (W123*)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GPathogenic
Select item 450095	NM_005340.7(HINT1):c.365A>T (p.His122Leu)	HINT1 (H122L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2129622	NM_005340.7(HINT1):c.355C>G (p.Arg119Gly)	HINT1 (R119G)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 978220	NM_005340.7(HINT1):c.355C>T (p.Arg119Trp)	HINT1 (R119W)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GConflicting classifications of pathogenicity
Select item 2882372	NM_005340.7(HINT1):c.342T>C (p.His114=)	HINT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GLikely benign
Select item 637253	NM_005340.7(HINT1):c.341A>G (p.His114Arg)	HINT1 (H114R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 37315	NM_005340.7(HINT1):c.334C>A (p.His112Asn)	HINT1 (H112N)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GLikely pathogenic
Select item 968425	NM_005340.7(HINT1):c.331G>A (p.Val111Ile)	HINT1 (V111I)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 659256	NM_005340.7(HINT1):c.329_330dup (p.Val111fs)	HINT1 (V111fs)	Duplication (frameshift variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GPathogenic
Select item 477395	NM_005340.7(HINT1):c.330C>T (p.His110=)	HINT1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1729599	NM_005340.7(HINT1):c.326A>G (p.Tyr109Cys)	HINT1 (Y109C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 637252	NM_005340.7(HINT1):c.316C>T (p.Gln106Ter)	HINT1 (Q106*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1355543	NM_005340.7(HINT1):c.302G>A (p.Gly101Asp)	HINT1 (G101D)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 2059265	NM_005340.7(HINT1):c.299A>G (p.Glu100Gly)	HINT1 (E100G)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 1333249	NM_005340.7(HINT1):c.292del (p.Val97_Val98insTer)	HINT1	Deletion (nonsense +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GPathogenic
Select item 861638	NM_005340.7(HINT1):c.292G>A (p.Val98Met)	HINT1 (V98M)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 545660	NM_005340.7(HINT1):c.289G>A (p.Val97Met)	HINT1 (V97M)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GLikely pathogenic
Select item 811058	NM_005340.7(HINT1):c.284G>A (p.Arg95Gln)	HINT1 (R95Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1070519	NM_005340.7(HINT1):c.283C>T (p.Arg95Ter)	HINT1 (R95*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GPathogenic
Select item 2971462	NM_005340.7(HINT1):c.281A>G (p.Tyr94Cys)	HINT1 (Y94C)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 1676723	NM_005340.7(HINT1):c.278G>T (p.Gly93Val)	HINT1 (G93V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GLikely pathogenic
Select item 37318	NM_005340.7(HINT1):c.278G>A (p.Gly93Asp)	HINT1 (G93D)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia +1 more	GPathogenic/Likely pathogenic
Select item 568648	NM_005340.7(HINT1):c.277G>T (p.Gly93Cys)	HINT1 (G93C)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 2784706	NM_005340.7(HINT1):c.276G>A (p.Lys92=)	HINT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GLikely benign
Select item 37314	NM_005340.7(HINT1):c.266G>T (p.Gly89Val)	HINT1 (G89V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1449215	NM_005340.7(HINT1):c.262C>A (p.Leu88Met)	HINT1 (L88M)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 2300668	NM_005340.7(HINT1):c.260A>C (p.Asp87Ala)	HINT1 (D87A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2093769	NM_005340.7(HINT1):c.251G>A (p.Cys84Tyr)	HINT1 (C84Y)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 37313	NM_005340.7(HINT1):c.250T>C (p.Cys84Arg)	HINT1 (C84R)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GPathogenic
Select item 946058	NM_005340.7(HINT1):c.245A>T (p.Lys82Met)	HINT1 (K82M)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 543793	NM_005340.7(HINT1):c.243C>T (p.Gly81=)	HINT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 665858	NM_005340.7(HINT1):c.242G>T (p.Gly81Val)	HINT1 (G81V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 566441	NM_005340.7(HINT1):c.237T>A (p.Ile79=)	HINT1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 665495	NM_005340.7(HINT1):c.217-3C>T	HINT1	Single nucleotide variant (intron variant)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 743387	NM_005340.7(HINT1):c.217-10C>T	HINT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681721	NM_005340.7(HINT1):c.217-111T>G	HINT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279255	NM_005340.7(HINT1):c.216+336A>G	HINT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1253253	NM_005340.7(HINT1):c.216+238dup	HINT1	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1224630	NM_005340.7(HINT1):c.216+238_216+239dup	HINT1	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1193955	NM_005340.7(HINT1):c.216+253del	HINT1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 681720	NM_005340.7(HINT1):c.216+37T>C	HINT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180104	NM_005340.7(HINT1):c.216+36T>G	HINT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1132110	NM_005340.7(HINT1):c.216+9A>C	HINT1	Single nucleotide variant (intron variant)	Autosomal recessive axonal neuropathy with neuromyotonia	GLikely benign
Select item 3374784	NM_005340.7(HINT1):c.216+4_216+7dup	HINT1	Duplication (splice donor variant)	not specified	GUncertain significance
Select item 951368	NM_005340.7(HINT1):c.216T>A (p.Ser72Arg)	HINT1 (S72R)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 1061705	NM_005340.7(HINT1):c.211G>A (p.Glu71Lys)	HINT1 (E71K)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 560367	NM_005340.7(HINT1):c.209A>G (p.Asp70Gly)	HINT1 (D70G)	Single nucleotide variant (missense variant +1 more)	Sensory axonal neuropathy	GLikely pathogenic
Select item 246535	NM_005340.7(HINT1):c.203A>T (p.Asp68Val)	HINT1 (D68V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 705501	NM_005340.7(HINT1):c.198A>G (p.Ala66=)	HINT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GBenign
Select item 2886996	NM_005340.7(HINT1):c.192T>C (p.Ser64=)	HINT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GLikely benign
Select item 2752806	NM_005340.7(HINT1):c.190del (p.Ser64fs)	HINT1 (S64fs)	Deletion (frameshift variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GPathogenic
Select item 1408642	NM_005340.7(HINT1):c.188T>C (p.Ile63Thr)	HINT1 (I63T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 945101	NM_005340.7(HINT1):c.188T>A (p.Ile63Asn)	HINT1 (I63N)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia +1 more	GConflicting classifications of pathogenicity
Select item 37317	NM_005340.7(HINT1):c.184C>T (p.Gln62Ter)	HINT1 (Q62*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 637941	NM_005340.7(HINT1):c.182C>T (p.Ser61Phe)	HINT1 (S61F)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 1044363	NM_005340.7(HINT1):c.167C>T (p.Pro56Leu)	HINT1 (P56L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 2098278	NM_005340.7(HINT1):c.160G>T (p.Val54Leu)	HINT1 (V54L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 518173	NM_005340.7(HINT1):c.159G>A (p.Leu53=)	HINT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia +2 more	GBenign/Likely benign
Select item 1453950	NM_005340.7(HINT1):c.157del (p.Leu53fs)	HINT1 (L53fs)	Deletion (frameshift variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GPathogenic
Select item 870703	NM_005340.7(HINT1):c.151_152del (p.His51fs)	HINT1 (H51fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 37316	NM_005340.7(HINT1):c.152A>G (p.His51Arg)	HINT1 (H51R)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GPathogenic
Select item 840807	NM_005340.7(HINT1):c.148A>C (p.Thr50Pro)	HINT1 (T50P)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia +1 more	GUncertain significance
Select item 425355	NM_005340.7(HINT1):c.148A>G (p.Thr50Ala)	HINT1 (T50A)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia +2 more	GUncertain significance
Select item 941002	NM_005340.7(HINT1):c.142G>A (p.Ala48Thr)	HINT1 (A48T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 963899	NM_005340.7(HINT1):c.137C>A (p.Pro46His)	HINT1 (P46H)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 964275	NM_005340.7(HINT1):c.136C>T (p.Pro46Ser)	HINT1 (P46S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 3105862	NM_005340.7(HINT1):c.128A>G (p.Asp43Gly)	HINT1 (D43G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1041555	NM_005340.7(HINT1):c.119C>G (p.Ala40Gly)	HINT1 (A40G)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 838803	NM_005340.7(HINT1):c.117T>A (p.Leu39=)	HINT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GLikely benign
Select item 477392	NM_005340.7(HINT1):c.117T>C (p.Leu39=)	HINT1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 545661	NM_005340.7(HINT1):c.112T>C (p.Cys38Arg)	HINT1 (C38R)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GLikely pathogenic
Select item 1916267	NM_005340.7(HINT1):c.112-1del	HINT1	Deletion (splice acceptor variant)	Autosomal recessive axonal neuropathy with neuromyotonia	GLikely pathogenic
Select item 1657723	NM_005340.7(HINT1):c.112-13C>T	HINT1	Single nucleotide variant (intron variant)	Autosomal recessive axonal neuropathy with neuromyotonia	GLikely benign
Select item 1653672	NM_005340.7(HINT1):c.112-29ATTT[5]	HINT1	Microsatellite (intron variant)	Autosomal recessive axonal neuropathy with neuromyotonia	GLikely benign
Select item 420732	NM_005340.7(HINT1):c.112-29ATTT[3]	HINT1	Microsatellite (intron variant)	not specified +1 more	GLikely benign
Select item 1200981	NM_005340.7(HINT1):c.112-308G>A	HINT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233730	NM_005340.7(HINT1):c.112-312G>T	HINT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236853	NM_005340.7(HINT1):c.111+340C>G	HINT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673571	NM_005340.7(HINT1):c.111+316T>C	HINT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227091	NM_005340.7(HINT1):c.111+268T>G	HINT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218327	NM_005340.7(HINT1):c.111+226G>C	HINT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241829	NM_005340.7(HINT1):c.111+208G>C	HINT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677303	NM_005340.7(HINT1):c.111+207C>T	HINT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190787	NM_005340.7(HINT1):c.111+121G>T	HINT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181030	NM_005340.7(HINT1):c.111+42A>G	HINT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681716	NM_005340.7(HINT1):c.111+37T>G	HINT1	Single nucleotide variant (intron variant)	not provided	GBenign

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