"GeneDx"[submitter] AND "SH3TC2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 351573	NM_024577.4(SH3TC2):c.*21786G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GLikely benign
Select item 351579	NM_024577.4(SH3TC2):c.*21474AAAC[2]	SH3TC2	Microsatellite (3 prime UTR variant)	Mononeuropathy of the Median Nerve +2 more	GLikely benign
Select item 351580	NM_024577.4(SH3TC2):c.*21472A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +2 more	GBenign/Likely benign
Select item 1676915	NM_024577.4(SH3TC2):c.*20967G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 351585	NM_024577.4(SH3TC2):c.*20564A>T	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +2 more	GLikely benign
Select item 351594	NM_024577.4(SH3TC2):c.*19573G>A	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GBenign
Select item 351596	NM_024577.4(SH3TC2):c.19563_19564dup	SH3TC2, LOC126807546	Duplication (3 prime UTR variant)	Mononeuropathy of the Median Nerve +2 more	GConflicting classifications of pathogenicity
Select item 351595	NM_024577.4(SH3TC2):c.*19564dup	LOC126807546, SH3TC2	Duplication (3 prime UTR variant)	Mononeuropathy of the Median Nerve +2 more	GBenign
Select item 351597	NM_024577.4(SH3TC2):c.*19519G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GBenign
Select item 351599	NM_024577.4(SH3TC2):c.*19406A>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GBenign
Select item 351602	NM_024577.4(SH3TC2):c.*19270G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GBenign/Likely benign
Select item 1675292	NM_024577.4(SH3TC2):c.*16330G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 351643	NM_024577.4(SH3TC2):c.*16020A>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GBenign
Select item 351645	NM_024577.4(SH3TC2):c.*15823T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GBenign
Select item 351655	NM_024577.4(SH3TC2):c.*15061C>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GBenign/Likely benign
Select item 351657	NM_024577.4(SH3TC2):c.*14894G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GBenign/Likely benign
Select item 351658	NM_024577.4(SH3TC2):c.*14856C>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GBenign
Select item 351661	NM_024577.4(SH3TC2):c.*14766T>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GBenign
Select item 906193	NM_024577.4(SH3TC2):c.*14750A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GBenign/Likely benign
Select item 351663	NM_024577.4(SH3TC2):c.*14621G>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GBenign
Select item 1676914	NM_024577.4(SH3TC2):c.*13492A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 351689	NM_024577.4(SH3TC2):c.*11852G>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GBenign
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 351694	NM_024577.4(SH3TC2):c.*11390A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GBenign
Select item 351696	NM_024577.4(SH3TC2):c.*11120G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GBenign/Likely benign
Select item 351701	NM_024577.4(SH3TC2):c.*10968G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GBenign
Select item 351703	NM_024577.4(SH3TC2):c.*10864G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 351705	NM_024577.4(SH3TC2):c.*10767G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GBenign/Likely benign
Select item 351715	NM_024577.4(SH3TC2):c.*10051ACCA[16]	SH3TC2	Microsatellite (3 prime UTR variant)	Mononeuropathy of the Median Nerve +2 more	GConflicting classifications of pathogenicity
Select item 1325979	NM_024577.4(SH3TC2):c.*10051ACCA[11]	SH3TC2	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 1238912	NM_024577.4(SH3TC2):c.*10051ACCA[12]	SH3TC2	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 351717	NM_024577.4(SH3TC2):c.*10051ACCA[13]	SH3TC2	Microsatellite (3 prime UTR variant)	Mononeuropathy of the Median Nerve +2 more	GConflicting classifications of pathogenicity
Select item 351716	NM_024577.4(SH3TC2):c.*10051ACCA[14]	SH3TC2	Microsatellite (3 prime UTR variant)	Mononeuropathy of the Median Nerve +2 more	GConflicting classifications of pathogenicity
Select item 351725	NM_024577.4(SH3TC2):c.*10052C>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GConflicting classifications of pathogenicity
Select item 351761	NM_024577.4(SH3TC2):c.*8111A>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +2 more	GConflicting classifications of pathogenicity
Select item 351763	NM_024577.4(SH3TC2):c.*8053G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +2 more	GBenign/Likely benign
Select item 1676913	NM_024577.4(SH3TC2):c.*7948G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 351782	NM_024577.4(SH3TC2):c.*6692A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 905267	NM_024577.4(SH3TC2):c.*6600T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 351787	NM_024577.4(SH3TC2):c.*6510G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 351788	NM_024577.4(SH3TC2):c.*6470T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 351789	NM_024577.4(SH3TC2):c.*6436G>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
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 351793	NM_024577.4(SH3TC2):c.*6301C>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 351794	NM_024577.4(SH3TC2):c.*6242A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 351795	NM_024577.4(SH3TC2):c.*6162C>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 351801	NM_024577.4(SH3TC2):c.*5799C>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 351808	NM_024577.4(SH3TC2):c.*5490G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 351839	NM_024577.4(SH3TC2):c.*3196T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 351841	NM_024577.4(SH3TC2):c.*3136G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 351843	NM_024577.4(SH3TC2):c.*3077C>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 351844	NM_024577.4(SH3TC2):c.*3061A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 1327282	NM_024577.4(SH3TC2):c.2952_2955dup	SH3TC2	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 351848	NM_024577.4(SH3TC2):c.*2956C>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GBenign
Select item 1678725	NM_024577.4(SH3TC2):c.2899_2910del	SH3TC2	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 351849	NM_024577.4(SH3TC2):c.*2900G>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GBenign/Likely benign
Select item 351853	NM_024577.4(SH3TC2):c.*2428C>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 351854	NM_024577.4(SH3TC2):c.*2397G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
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 1288879	NM_024577.4(SH3TC2):c.1944_1946del	SH3TC2	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1271738	NM_024577.4(SH3TC2):c.1940_1941insT	SH3TC2	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 351865	NM_024577.4(SH3TC2):c.*1935T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +2 more	GBenign
Select item 351866	NM_024577.4(SH3TC2):c.*1909G>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +2 more	GBenign
Select item 351868	NM_024577.4(SH3TC2):c.*1639T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +2 more	GBenign
Select item 351894	NM_024577.4(SH3TC2):c.*47C>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
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 351895	NM_024577.4(SH3TC2):c.3834G>A (p.Ala1278=)	SH3TC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +5 more	GBenign/Likely benign
Select item 219968	NM_024577.4(SH3TC2):c.3813C>T (p.Ser1271=)	SH3TC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 351896	NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=)	SH3TC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 1314639	NM_024577.4(SH3TC2):c.3757A>C (p.Ile1253Leu)	SH3TC2 (I1253L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 188089	NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)	SH3TC2 (D1229V)	Single nucleotide variant (missense variant)	SH3TC2-related condition +7 more	GConflicting classifications of pathogenicity
Select item 426503	NM_024577.4(SH3TC2):c.3676-8G>A	SH3TC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 1216226	NM_024577.4(SH3TC2):c.3676-118CAAA[8]	SH3TC2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1270420	NM_024577.4(SH3TC2):c.3676-94C>A	SH3TC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298059	NM_024577.4(SH3TC2):c.3676-98C>G	SH3TC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235643	NM_024577.4(SH3TC2):c.3676-251T>C	SH3TC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228982	NM_024577.4(SH3TC2):c.3676-269G>C	SH3TC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199515	NM_024577.4(SH3TC2):c.3676-290T>A	SH3TC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213491	NM_024577.4(SH3TC2):c.3675+278T>C	SH3TC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187143	NM_024577.4(SH3TC2):c.3675+210T>A	SH3TC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 450036	NM_024577.4(SH3TC2):c.3643C>A (p.Arg1215Ser)	SH3TC2 (R1215S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 139102	NM_024577.4(SH3TC2):c.3594A>G (p.Pro1198=)	SH3TC2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 130299	NM_024577.4(SH3TC2):c.3594A>C (p.Pro1198=)	SH3TC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +5 more	GBenign
Select item 157532	NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val)	SH3TC2 (M1184V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 245766	NM_024577.4(SH3TC2):c.3512G>T (p.Arg1171Leu)	SH3TC2 (R1171L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 476907	NM_024577.4(SH3TC2):c.3479-8A>G	SH3TC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +3 more	GBenign/Likely benign
Select item 1201405	NM_024577.4(SH3TC2):c.3478+113C>A	SH3TC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209322	NM_024577.4(SH3TC2):c.3478+37G>C	SH3TC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 221185	NM_024577.4(SH3TC2):c.3472G>A (p.Val1158Ile)	SH3TC2 (V1158I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +5 more	GBenign
Select item 1304823	NM_024577.4(SH3TC2):c.3466A>G (p.Ser1156Gly)	SH3TC2 (S1156G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2197256	NM_024577.4(SH3TC2):c.3418G>A (p.Glu1140Lys)	SH3TC2 (E1140K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 234414	NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)	SH3TC2 (R1127Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +10 more	GConflicting classifications of pathogenicity
Select item 234910	NM_024577.4(SH3TC2):c.3362C>T (p.Ala1121Val)	SH3TC2 (A1121V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +4 more	GBenign/Likely benign
Select item 382050	NM_024577.4(SH3TC2):c.3360G>A (p.Lys1120=)	SH3TC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1208233	NM_024577.4(SH3TC2):c.3328-117C>T	SH3TC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181410	NM_024577.4(SH3TC2):c.3328-236T>C	SH3TC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684364	NM_024577.4(SH3TC2):c.3328-315G>A	SH3TC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670077	NM_024577.4(SH3TC2):c.3327+225C>G	SH3TC2	Single nucleotide variant (intron variant)	not provided	GBenign

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