"Ambry Genetics"[submitter] AND "SH3TC2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2491984	NM_024577.4(SH3TC2):c.3853G>A (p.Gly1285Ser)	SH3TC2 (G1285S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 655378	NM_024577.4(SH3TC2):c.3836G>A (p.Arg1279Gln)	SH3TC2 (R1279Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 351895	NM_024577.4(SH3TC2):c.3834G>A (p.Ala1278=)	SH3TC2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 916956	NM_024577.4(SH3TC2):c.3818G>A (p.Cys1273Tyr)	SH3TC2 (C1273Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 219968	NM_024577.4(SH3TC2):c.3813C>T (p.Ser1271=)	SH3TC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +6 more	GConflicting classifications of pathogenicity
Select item 351896	NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=)	SH3TC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +6 more	GConflicting classifications of pathogenicity
Select item 1422297	NM_024577.4(SH3TC2):c.3790C>G (p.Pro1264Ala)	SH3TC2 (P1264A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 543462	NM_024577.4(SH3TC2):c.3771G>A (p.Leu1257=)	SH3TC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 1314639	NM_024577.4(SH3TC2):c.3757A>C (p.Ile1253Leu)	SH3TC2 (I1253L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 287406	NM_024577.4(SH3TC2):c.3757A>G (p.Ile1253Val)	SH3TC2 (I1253V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3161493	NM_024577.4(SH3TC2):c.3742G>A (p.Glu1248Lys)	SH3TC2 (E1248K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 932396	NM_024577.4(SH3TC2):c.3736G>A (p.Asp1246Asn)	SH3TC2 (D1246N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +4 more	GUncertain significance
Select item 543478	NM_024577.4(SH3TC2):c.3723G>A (p.Ala1241=)	SH3TC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2269687	NM_024577.4(SH3TC2):c.3688G>T (p.Ala1230Ser)	SH3TC2 (A1230S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1733937	NM_024577.4(SH3TC2):c.3688G>A (p.Ala1230Thr)	SH3TC2 (A1230T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 188089	NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)	SH3TC2 (D1229V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +6 more	GConflicting classifications of pathogenicity
Select item 543329	NM_024577.4(SH3TC2):c.3644G>A (p.Arg1215His)	SH3TC2 (R1215H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 2288780	NM_024577.4(SH3TC2):c.3634G>T (p.Val1212Leu)	SH3TC2 (V1212L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1038579	NM_024577.4(SH3TC2):c.3634G>A (p.Val1212Met)	SH3TC2 (V1212M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 624068	NM_024577.4(SH3TC2):c.3611A>G (p.Lys1204Arg)	SH3TC2 (K1204R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +3 more	GUncertain significance
Select item 351897	NM_024577.4(SH3TC2):c.3600G>A (p.Leu1200=)	SH3TC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4C +2 more	GConflicting classifications of pathogenicity
Select item 1423498	NM_024577.4(SH3TC2):c.3593_3594inv (p.Pro1198Leu)	SH3TC2 (P1198L)	Inversion (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 139102	NM_024577.4(SH3TC2):c.3594A>G (p.Pro1198=)	SH3TC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4C +5 more	GBenign/Likely benign
Select item 157532	NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val)	SH3TC2 (M1184V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 946169	NM_024577.4(SH3TC2):c.3538C>A (p.His1180Asn)	SH3TC2 (H1180N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
Select item 952984	NM_024577.4(SH3TC2):c.3512G>A (p.Arg1171His)	SH3TC2 (R1171H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4C +3 more	GUncertain significance
Select item 245766	NM_024577.4(SH3TC2):c.3512G>T (p.Arg1171Leu)	SH3TC2 (R1171L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +3 more	GConflicting classifications of pathogenicity
Select item 1732134	NM_024577.4(SH3TC2):c.3509A>G (p.His1170Arg)	SH3TC2 (H1170R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1731801	NM_024577.4(SH3TC2):c.3478+5G>A	SH3TC2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2082119	NM_024577.4(SH3TC2):c.3478+4G>A	SH3TC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 2623622	NM_024577.4(SH3TC2):c.3460A>G (p.Arg1154Gly)	SH3TC2 (R1154G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 351898	NM_024577.4(SH3TC2):c.3433G>T (p.Ala1145Ser)	SH3TC2 (A1145S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4C +4 more	GUncertain significance
Select item 407264	NM_024577.4(SH3TC2):c.3413G>A (p.Ser1138Asn)	SH3TC2 (S1138N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +5 more	GUncertain significance
Select item 234414	NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)	SH3TC2 (R1127Q)	Single nucleotide variant (missense variant)	SH3TC2-related disorder +10 more	GConflicting classifications of pathogenicity
Select item 637412	NM_024577.4(SH3TC2):c.3379C>T (p.Arg1127Trp)	SH3TC2 (R1127W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
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 647436	NM_024577.4(SH3TC2):c.3332G>T (p.Gly1111Val)	SH3TC2 (G1111V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 215924	NM_024577.4(SH3TC2):c.3315G>A (p.Val1105=)	SH3TC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 448369	NM_024577.4(SH3TC2):c.3313G>A (p.Val1105Met)	SH3TC2 (V1105M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 1060222	NM_024577.4(SH3TC2):c.3308A>G (p.His1103Arg)	SH3TC2 (H1103R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 836169	NM_024577.4(SH3TC2):c.3305A>G (p.His1102Arg)	SH3TC2 (H1102R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 351899	NM_024577.4(SH3TC2):c.3303G>A (p.Arg1101=)	SH3TC2	Single nucleotide variant (synonymous variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GConflicting classifications of pathogenicity
Select item 917191	NM_024577.4(SH3TC2):c.3296G>A (p.Arg1099His)	SH3TC2 (R1099H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 351900	NM_024577.4(SH3TC2):c.3294C>T (p.Thr1098=)	SH3TC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +6 more	GBenign/Likely benign
Select item 476906	NM_024577.4(SH3TC2):c.3293C>T (p.Thr1098Ile)	SH3TC2 (T1098I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1060757	NM_024577.4(SH3TC2):c.3287A>G (p.Asn1096Ser)	SH3TC2 (N1096S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 850953	NM_024577.4(SH3TC2):c.3254A>G (p.Lys1085Arg)	SH3TC2 (K1085R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 862907	NM_024577.4(SH3TC2):c.3211A>G (p.Ile1071Val)	SH3TC2 (I1071V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 543471	NM_024577.4(SH3TC2):c.3168C>T (p.Leu1056=)	SH3TC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 246560	NM_024577.4(SH3TC2):c.3166C>T (p.Leu1056Phe)	SH3TC2 (L1056F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1728231	NM_024577.4(SH3TC2):c.3155G>A (p.Arg1052Gln)	SH3TC2 (R1052Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 476905	NM_024577.4(SH3TC2):c.3149C>T (p.Ala1050Val)	SH3TC2 (A1050V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 805447	NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro)	SH3TC2 (L1048P)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3318179	NM_024577.4(SH3TC2):c.3141G>T (p.Trp1047Cys)	SH3TC2 (W1047C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 451327	NM_024577.4(SH3TC2):c.3127G>T (p.Ala1043Ser)	SH3TC2 (A1043S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1727798	NM_024577.4(SH3TC2):c.3115del (p.Glu1039fs)	SH3TC2 (E1039fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1423946	NM_024577.4(SH3TC2):c.3103A>G (p.Ile1035Val)	SH3TC2 (I1035V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 194267	NM_024577.4(SH3TC2):c.3095G>A (p.Arg1032His)	SH3TC2 (R1032H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 543341	NM_024577.4(SH3TC2):c.3094C>T (p.Arg1032Cys)	SH3TC2 (R1032C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 476904	NM_024577.4(SH3TC2):c.3077G>A (p.Cys1026Tyr)	SH3TC2 (C1026Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1799285	NM_024577.4(SH3TC2):c.3053G>A (p.Arg1018Lys)	SH3TC2 (R1018K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 351901	NM_024577.4(SH3TC2):c.3049G>A (p.Ala1017Thr)	SH3TC2 (A1017T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +3 more	GConflicting classifications of pathogenicity
Select item 1482002	NM_024577.4(SH3TC2):c.3035G>A (p.Arg1012Gln)	SH3TC2 (R1012Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1040016	NM_024577.4(SH3TC2):c.3017C>T (p.Ser1006Phe)	SH3TC2 (S1006F)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2173900	NM_024577.4(SH3TC2):c.3006G>T (p.Arg1002Ser)	SH3TC2 (R1002S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 1375186	NM_024577.4(SH3TC2):c.2999A>C (p.Glu1000Ala)	SH3TC2 (E1000A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 241504	NM_024577.4(SH3TC2):c.2990G>A (p.Arg997Gln)	SH3TC2 (R997Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GConflicting classifications of pathogenicity
Select item 246193	NM_024577.4(SH3TC2):c.2954A>G (p.Glu985Gly)	SH3TC2 (E985G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +6 more	GConflicting classifications of pathogenicity
Select item 382125	NM_024577.4(SH3TC2):c.2940C>T (p.Cys980=)	SH3TC2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 351902	NM_024577.4(SH3TC2):c.2913C>T (p.Ser971=)	SH3TC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +5 more	GBenign/Likely benign
Select item 387211	NM_024577.4(SH3TC2):c.2873-4T>A	SH3TC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 963462	NM_024577.4(SH3TC2):c.2861G>A (p.Arg954Gln)	SH3TC2 (R954Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2482	NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)	SH3TC2 (R954*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4C +7 more	GPathogenic/Likely pathogenic
Select item 2277228	NM_024577.4(SH3TC2):c.2859T>A (p.His953Gln)	SH3TC2 (H953Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 855870	NM_024577.4(SH3TC2):c.2858A>C (p.His953Pro)	SH3TC2 (H953P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 448368	NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr)	SH3TC2 (H938Y)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 833911	NM_024577.4(SH3TC2):c.2743A>T (p.Thr915Ser)	SH3TC2 (T915S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 515492	NM_024577.4(SH3TC2):c.2715C>G (p.Leu905=)	SH3TC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 219705	NM_024577.4(SH3TC2):c.2671G>A (p.Ala891Thr)	SH3TC2 (A891T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +4 more	GUncertain significance
Select item 1794107	NM_024577.4(SH3TC2):c.2635A>G (p.Met879Val)	SH3TC2 (M879V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264393	NM_024577.4(SH3TC2):c.2629G>A (p.Val877Met)	SH3TC2 (V877M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528610	NM_024577.4(SH3TC2):c.2602G>A (p.Glu868Lys)	SH3TC2 (E868K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1793671	NM_024577.4(SH3TC2):c.2600A>T (p.Gln867Leu)	SH3TC2 (Q867L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 476901	NM_024577.4(SH3TC2):c.2582G>A (p.Arg861Gln)	SH3TC2 (R861Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +3 more	GConflicting classifications of pathogenicity
Select item 543360	NM_024577.4(SH3TC2):c.2552G>A (p.Arg851Gln)	SH3TC2 (R851Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2199715	NM_024577.4(SH3TC2):c.2551C>G (p.Arg851Gly)	SH3TC2 (R851G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 245730	NM_024577.4(SH3TC2):c.2551C>T (p.Arg851Trp)	SH3TC2 (R851W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 857705	NM_024577.4(SH3TC2):c.2516A>G (p.Tyr839Cys)	SH3TC2 (Y839C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1792439	NM_024577.4(SH3TC2):c.2514C>G (p.Ile838Met)	SH3TC2 (I838M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 476898	NM_024577.4(SH3TC2):c.2492G>A (p.Ser831Asn)	SH3TC2 (S831N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +5 more	GUncertain significance
Select item 543463	NM_024577.4(SH3TC2):c.2464C>T (p.Leu822=)	SH3TC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 387819	NM_024577.4(SH3TC2):c.2385C>T (p.Ser795=)	SH3TC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +3 more	GLikely benign
Select item 2555869	NM_024577.4(SH3TC2):c.2380G>C (p.Glu794Gln)	SH3TC2 (E794Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 966685	NM_024577.4(SH3TC2):c.2352G>T (p.Leu784Phe)	SH3TC2 (L784F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1114064	NM_024577.4(SH3TC2):c.2342G>T (p.Ser781Ile)	SH3TC2 (S781I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
Select item 3318177	NM_024577.4(SH3TC2):c.2334C>G (p.His778Gln)	SH3TC2 (H778Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263532	NM_024577.4(SH3TC2):c.2329A>G (p.Ile777Val)	SH3TC2 (I777V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 958114	NM_024577.4(SH3TC2):c.2311A>G (p.Arg771Gly)	SH3TC2 (R771G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 245704	NM_024577.4(SH3TC2):c.2306A>G (p.Glu769Gly)	SH3TC2 (E769G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 220505	NM_024577.4(SH3TC2):c.2304C>T (p.Leu768=)	SH3TC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity

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