ClinVar for MedGen (Select 356581) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065224	NM_024577.4(SH3TC2):c.2402G>A (p.Cys801Tyr)	SH3TC2 (C801Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4C	GUncertain significance
Select item 2663847	NM_024577.4(SH3TC2):c.1834G>T (p.Glu612Ter)	SH3TC2 (E612*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4C	GLikely pathogenic
Select item 2585443	NM_024577.4(SH3TC2):c.3692_3693del (p.Thr1231fs)	SH3TC2 (T1231fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4C	GUncertain significance
Select item 2585442	NM_024577.4(SH3TC2):c.731+1G>A	SH3TC2	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease type 4C	GLikely pathogenic
Select item 2504573	NM_024577.4(SH3TC2):c.3203A>G (p.Gln1068Arg)	SH3TC2 (Q1068R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4C	GUncertain significance
Select item 2501663	NM_024577.4(SH3TC2):c.1691A>G (p.Asp564Gly)	SH3TC2 (D564G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4C	GPathogenic
Select item 2431041	NM_024577.4(SH3TC2):c.1267G>T (p.Glu423Ter)	SH3TC2 (E423*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4C	GPathogenic
Select item 2412818	NM_024577.4(SH3TC2):c.3733_3734del (p.Leu1244_Gly1245insTer)	SH3TC2	Deletion (nonsense)	Charcot-Marie-Tooth disease type 4C	GUncertain significance
Select item 2412813	NM_024577.4(SH3TC2):c.2838_2850dup (p.Leu951fs)	SH3TC2 (L951fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 4C	GLikely pathogenic
Select item 1698933	NM_024577.4(SH3TC2):c.2577T>A (p.Tyr859Ter)	SH3TC2 (Y859*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4C	GLikely pathogenic
Select item 1698706	NM_024577.4(SH3TC2):c.3472dup (p.Val1158fs)	SH3TC2 (V1158fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 4C	GLikely pathogenic
Select item 1687474	NM_024577.4(SH3TC2):c.929dup (p.Ser312fs)	SH3TC2 (S312fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 4C	GPathogenic
Select item 1686184	NM_024577.4(SH3TC2):c.731+2T>G	SH3TC2	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease type 4C	GPathogenic
Select item 1444894	NM_024577.4(SH3TC2):c.3627T>A (p.Tyr1209Ter)	SH3TC2 (Y1209*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4 +1 more	GPathogenic
Select item 1184502	NM_024577.4(SH3TC2):c.287C>T (p.Ser96Leu)	SH3TC2 (S96L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1172758	NM_024577.4(SH3TC2):c.2599C>T (p.Gln867Ter)	SH3TC2 (Q867*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4C	GPathogenic
Select item 1120206	NM_024577.4(SH3TC2):c.233_239del (p.Leu78fs)	SH3TC2 (L78fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4C	GPathogenic
Select item 1031378	NM_024577.4(SH3TC2):c.3804C>T (p.Ser1268=)	SH3TC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4C	GUncertain significance
Select item 1030853	NM_024577.4(SH3TC2):c.910G>A (p.Gly304Arg)	SH3TC2 (G304R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 1030852	NM_024577.4(SH3TC2):c.383T>G (p.Leu128Ter)	SH3TC2 (L128*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4C	GPathogenic
Select item 1030851	NM_024577.4(SH3TC2):c.3213C>T (p.Ile1071=)	SH3TC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4C	GUncertain significance
Select item 975104	NM_024577.4(SH3TC2):c.2849G>T (p.Gly950Val)	SH3TC2 (G950V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4C	GUncertain significance
Select item 952984	NM_024577.4(SH3TC2):c.3512G>A (p.Arg1171His)	SH3TC2 (R1171H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +3 more	GUncertain significance
Select item 932396	NM_024577.4(SH3TC2):c.3736G>A (p.Asp1246Asn)	SH3TC2 (D1246N)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 917271	NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp)	SH3TC2 (G1217D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 907994	NM_024577.4(SH3TC2):c.*17301T>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 907993	NM_024577.4(SH3TC2):c.*17482A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 907919	NM_024577.4(SH3TC2):c.*5536T>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GBenign/Likely benign
Select item 907918	NM_024577.4(SH3TC2):c.*18699T>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GBenign
Select item 907854	NM_024577.4(SH3TC2):c.*19438C>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 907802	NM_024577.4(SH3TC2):c.*20230G>T	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 907801	NM_024577.4(SH3TC2):c.*20400A>C	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 907747	NM_024577.4(SH3TC2):c.*7451C>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GBenign
Select item 907746	NM_024577.4(SH3TC2):c.*7810T>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GLikely benign
Select item 907745	NM_024577.4(SH3TC2):c.*21119G>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 907744	NM_024577.4(SH3TC2):c.*21149A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GConflicting classifications of pathogenicity
Select item 907743	NM_024577.4(SH3TC2):c.*21281T>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 907696	NM_024577.4(SH3TC2):c.*8261G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 907695	NM_024577.4(SH3TC2):c.*22208T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 907619	NM_024577.4(SH3TC2):c.*9034A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 907618	NM_024577.4(SH3TC2):c.*9122G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 907617	NM_024577.4(SH3TC2):c.*9193A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 907496	NM_024577.4(SH3TC2):c.1922G>T (p.Arg641Leu)	SH3TC2 (R641L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +3 more	GUncertain significance
Select item 907495	NM_024577.4(SH3TC2):c.*10111T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 907494	NM_024577.4(SH3TC2):c.*10113T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 907433	NM_024577.4(SH3TC2):c.*10765A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 907432	NM_024577.4(SH3TC2):c.*10802A>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 907381	NM_024577.4(SH3TC2):c.3676-13A>G	SH3TC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 907380	NM_024577.4(SH3TC2):c.*11427G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GLikely benign
Select item 907317	NM_024577.4(SH3TC2):c.*651C>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 907316	NM_024577.4(SH3TC2):c.*12189C>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GLikely benign
Select item 907315	NM_024577.4(SH3TC2):c.*12190G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GBenign
Select item 907254	NM_024577.4(SH3TC2):c.*1421A>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 907253	NM_024577.4(SH3TC2):c.*1545A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 907252	NM_024577.4(SH3TC2):c.*1616C>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 907251	NM_024577.4(SH3TC2):c.*13204A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GBenign/Likely benign
Select item 907250	NM_024577.4(SH3TC2):c.*13292G>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 907187	NM_024577.4(SH3TC2):c.*2118G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 907186	NM_024577.4(SH3TC2):c.*2237G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GBenign/Likely benign
Select item 907185	NM_024577.4(SH3TC2):c.*14450A>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 907184	NM_024577.4(SH3TC2):c.*14480A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 907121	NM_024577.4(SH3TC2):c.*2921G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 907120	NM_024577.4(SH3TC2):c.*2923A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 907066	NM_024577.4(SH3TC2):c.*3246A>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GBenign
Select item 907065	NM_024577.4(SH3TC2):c.*3313G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 907064	NM_024577.4(SH3TC2):c.*3419C>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 907009	NM_024577.4(SH3TC2):c.*16720T>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 906944	NM_024577.4(SH3TC2):c.*5741G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 906943	NM_024577.4(SH3TC2):c.*5748G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 906942	NM_024577.4(SH3TC2):c.*18824T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 906941	NM_024577.4(SH3TC2):c.*19019T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 906868	NM_024577.4(SH3TC2):c.*6382T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 906867	NM_024577.4(SH3TC2):c.*6392C>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 906866	NM_024577.4(SH3TC2):c.*19552G>T	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 906865	NM_024577.4(SH3TC2):c.*19631T>A	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 906809	NM_024577.4(SH3TC2):c.*7064A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 906808	NM_024577.4(SH3TC2):c.*7152G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 906807	NM_024577.4(SH3TC2):c.*7189C>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 906806	NM_024577.4(SH3TC2):c.*20512C>A	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GLikely benign
Select item 906805	NM_024577.4(SH3TC2):c.*20553A>G	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 906746	NM_024577.4(SH3TC2):c.*7877A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 906745	NM_024577.4(SH3TC2):c.*7898A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 906744	NM_024577.4(SH3TC2):c.*7917A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GConflicting classifications of pathogenicity
Select item 906743	NM_024577.4(SH3TC2):c.*7918C>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GBenign/Likely benign
Select item 906742	NM_024577.4(SH3TC2):c.*21371A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 906669	NM_024577.3(SH3TC2):c.-77C>T	LOC114004390, SH3TC2	Single nucleotide variant	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 906668	NM_024577.4(SH3TC2):c.*8349T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 906667	NM_024577.4(SH3TC2):c.*22505G>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 906597	NM_024577.4(SH3TC2):c.*9357T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 906543	NM_024577.4(SH3TC2):c.1507G>A (p.Glu503Lys)	SH3TC2 (E503K)	Single nucleotide variant (missense variant)	Susceptibility to mononeuropathy of the median nerve, mild +3 more	GConflicting classifications of pathogenicity
Select item 906542	NM_024577.4(SH3TC2):c.*10014T>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 906494	NM_024577.4(SH3TC2):c.*10230A>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 906493	NM_024577.4(SH3TC2):c.*10395A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 906375	NM_024577.4(SH3TC2):c.*39A>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 906374	NM_024577.4(SH3TC2):c.*44G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 906373	NM_024577.4(SH3TC2):c.*11589C>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GConflicting classifications of pathogenicity
Select item 906372	NM_024577.4(SH3TC2):c.*11604G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 906304	NM_024577.4(SH3TC2):c.*797A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GLikely benign
Select item 906303	NM_024577.4(SH3TC2):c.*12256G>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 906302	NM_024577.4(SH3TC2):c.*12356A>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance

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