ClinVar for MedGen (Select 1814513) - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2882372	NM_005340.7(HINT1):c.342T>C (p.His114=)	HINT1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	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 2801192	NM_005340.7(HINT1):c.84A>G (p.Pro28=)	HINT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GLikely benign
Select item 2784706	NM_005340.7(HINT1):c.276G>A (p.Lys92=)	HINT1	Single nucleotide variant (non-coding transcript 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 2750500	NM_005340.7(HINT1):c.36G>A (p.Arg12=)	HINT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GLikely benign
Select item 2706088	NM_005340.7(HINT1):c.30C>A (p.Val10=)	HINT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GLikely benign
Select item 2425337	NC_000005.9:g.(?_130495140)_(130500898_?)del	HINT1	Deletion	Autosomal recessive axonal neuropathy with neuromyotonia	GPathogenic
Select item 2129622	NM_005340.7(HINT1):c.355C>G (p.Arg119Gly)	HINT1 (R119G)	Single nucleotide variant (non-coding transcript 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 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 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 1974677	NM_005340.7(HINT1):c.38C>G (p.Pro13Arg)	HINT1 (P13R)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
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 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 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 1524005	NM_005340.7(HINT1):c.111+2del	HINT1	Deletion (non-coding transcript variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GLikely pathogenic
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 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 1449215	NM_005340.7(HINT1):c.262C>A (p.Leu88Met)	HINT1 (L88M)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 1436275	NM_005340.7(HINT1):c.103G>T (p.Asp35Tyr)	HINT1 (D35Y)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 1436145	NM_005340.7(HINT1):c.82C>A (p.Pro28Thr)	HINT1 (P28T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 1430606	NM_005340.7(HINT1):c.61A>G (p.Lys21Glu)	HINT1 (K21E)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
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 1361435	NM_005340.7(HINT1):c.92T>C (p.Ile31Thr)	HINT1 (I31T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia +1 more	GUncertain significance
Select item 1355543	NM_005340.7(HINT1):c.302G>A (p.Gly101Asp)	HINT1 (G101D)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 1353045	NM_005340.7(HINT1):c.13A>C (p.Ile5Leu)	HINT1 (I5L)	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 1146028	NM_005340.7(HINT1):c.33T>G (p.Ala11=)	HINT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	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 1109723	NM_005340.7(HINT1):c.63G>A (p.Lys21=)	HINT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GLikely benign
Select item 1073843	NC_000005.9:g.(?_130500743)_(130501051_?)del	HINT1	Deletion	Autosomal recessive axonal neuropathy with neuromyotonia	GPathogenic
Select item 1073842	NC_000005.9:g.(?_130495140)_130500898del	HINT1	Deletion	Autosomal recessive axonal neuropathy with neuromyotonia	GPathogenic
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 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 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 1056412	NM_005340.7(HINT1):c.54C>G (p.Ile18Met)	HINT1 (I18M)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 1048596	NM_005340.7(HINT1):c.99del (p.Phe33fs)	HINT1 (F33fs)	Deletion (frameshift variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GPathogenic
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 1041964	NM_005340.7(HINT1):c.73A>C (p.Lys25Gln)	HINT1 (K25Q)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	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 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 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 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 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 956140	NM_005340.7(HINT1):c.71G>T (p.Arg24Leu)	HINT1 (R24L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 946058	NM_005340.7(HINT1):c.245A>T (p.Lys82Met)	HINT1 (K82M)	Single nucleotide variant (non-coding transcript 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	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 939962	NM_005340.7(HINT1):c.110G>A (p.Arg37Gln)	HINT1 (R37Q)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
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 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 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 836107	NM_005340.7(HINT1):c.59G>A (p.Gly20Glu)	HINT1 (G20E)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia +1 more	GUncertain significance
Select item 811058	NM_005340.7(HINT1):c.284G>A (p.Arg95Gln)	HINT1 (R95Q)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia +1 more	GConflicting classifications of pathogenicity
Select item 705501	NM_005340.7(HINT1):c.198A>G (p.Ala66=)	HINT1	Single nucleotide variant (synonymous variant +1 more)	HINT1-related disorder +1 more	GBenign/Likely benign
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 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 659597	NC_000005.10:g.(?_131159273)_(131165358_?)del	HINT1	Deletion	Autosomal recessive axonal neuropathy with neuromyotonia	GPathogenic
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 646953	NC_000005.9:g.(?_130494966)_(130501051_?)dup	HINT1	Duplication	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
Select item 645822	NM_005340.7(HINT1):c.2T>C (p.Met1Thr)	HINT1 (M1T)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GPathogenic
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 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 575871	NM_005340.7(HINT1):c.81A>G (p.Ile27Met)	HINT1 (I27M)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
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 566441	NM_005340.7(HINT1):c.237T>A (p.Ile79=)	HINT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia	GUncertain significance
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 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 543794	NC_000005.10:g.(?_131159427)_(131165225_?)del	HINT1	Deletion	Autosomal recessive axonal neuropathy with neuromyotonia	GPathogenic
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 518173	NM_005340.7(HINT1):c.159G>A (p.Leu53=)	HINT1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 477395	NM_005340.7(HINT1):c.330C>T (p.His110=)	HINT1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 477394	NM_005340.7(HINT1):c.111+6_111+7insC	HINT1	Insertion (non-coding transcript variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia +1 more	GBenign/Likely benign
Select item 477392	NM_005340.7(HINT1):c.117T>C (p.Leu39=)	HINT1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 450095	NM_005340.7(HINT1):c.365A>T (p.His122Leu)	HINT1 (H122L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 425355	NM_005340.7(HINT1):c.148A>G (p.Thr50Ala)	HINT1 (T50A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 420732	NM_005340.7(HINT1):c.112-29ATTT[3]	HINT1	Microsatellite (intron variant)	not specified +1 more	GLikely benign
Select item 259745	NM_005340.7(HINT1):c.57T>C (p.Phe19=)	HINT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia +1 more	GBenign
Select item 246535	NM_005340.7(HINT1):c.203A>T (p.Asp68Val)	HINT1 (D68V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive axonal neuropathy with neuromyotonia +2 more	GUncertain significance
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 37317	NM_005340.7(HINT1):c.184C>T (p.Gln62Ter)	HINT1 (Q62*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	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 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	GPathogenic
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 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 37312	NM_005340.7(HINT1):c.110G>C (p.Arg37Pro)	HINT1 (R37P)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic

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Items: 91