ClinVar for MedGen (Select 893588) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1614404	NM_024577.4(SH3TC2):c.3546T>C (p.Tyr1182=)	SH3TC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 917276	NM_024577.4(SH3TC2):c.229C>T (p.Arg77Trp)	SH3TC2 (R77W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GConflicting classifications of pathogenicity
Select item 697115	NM_024577.4(SH3TC2):c.87G>A (p.Ser29=)	SH3TC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 696271	NM_024577.4(SH3TC2):c.2097G>A (p.Gln699=)	SH3TC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4C +2 more	GBenign/Likely benign
Select item 631961	NM_024577.4(SH3TC2):c.524del (p.Gln175fs)	SH3TC2 (Q175fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
Select item 631960	NM_024577.4(SH3TC2):c.730C>T (p.Gln244Ter)	SH3TC2 (Q244*)	Single nucleotide variant (nonsense)	SH3TC2-related disorder	GUncertain significance
Select item 568124	NM_024577.4(SH3TC2):c.385+3A>G	SH3TC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4C +4 more	GUncertain significance
Select item 546985	NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val)	SH3TC2 (A468V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4C +4 more	GConflicting classifications of pathogenicity
Select item 543415	NM_024577.4(SH3TC2):c.830C>T (p.Thr277Met)	SH3TC2 (T277M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 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 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 516658	NM_024577.4(SH3TC2):c.2873-18T>C	SH3TC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +2 more	GBenign/Likely benign
Select item 476907	NM_024577.4(SH3TC2):c.3479-8A>G	SH3TC2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 476885	NM_024577.4(SH3TC2):c.1482C>T (p.Leu494=)	SH3TC2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 476881	NM_024577.4(SH3TC2):c.1178C>T (p.Ala393Val)	SH3TC2 (A393V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 448370	NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys)	SH3TC2 (R1171C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4C +4 more	GPathogenic/Likely pathogenic
Select item 421261	NM_024577.4(SH3TC2):c.748_750del (p.Tyr250del)	SH3TC2 (Y250del)	Deletion (inframe_deletion)	SH3TC2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 407267	NM_024577.4(SH3TC2):c.1483A>G (p.Thr495Ala)	SH3TC2 (T495A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 392398	NM_024577.4(SH3TC2):c.1299G>A (p.Ser433=)	SH3TC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 392355	NM_024577.4(SH3TC2):c.1653C>T (p.Phe551=)	SH3TC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 386231	NM_024577.4(SH3TC2):c.1329G>A (p.Glu443=)	SH3TC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 384797	NM_024577.4(SH3TC2):c.1177+10G>A	SH3TC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +5 more	GBenign/Likely benign
Select item 378579	NM_024577.4(SH3TC2):c.2868A>G (p.Leu956=)	SH3TC2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 378578	NM_024577.4(SH3TC2):c.1473C>T (p.Phe491=)	SH3TC2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 351896	NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=)	SH3TC2	Single nucleotide variant (synonymous variant)	not specified +6 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 246592	NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val)	SH3TC2 (M334V)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 245683	NM_024577.4(SH3TC2):c.1195T>C (p.Phe399Leu)	SH3TC2 (F399L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 241503	NM_024577.4(SH3TC2):c.2322C>T (p.Asp774=)	SH3TC2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +5 more	GBenign
Select item 234623	NM_024577.4(SH3TC2):c.1384G>T (p.Glu462Ter)	SH3TC2 (E462*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
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 220296	NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala)	SH3TC2 (T27A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +5 more	GConflicting classifications of pathogenicity
Select item 219741	NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro)	SH3TC2 (Q46P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +6 more	GConflicting classifications of pathogenicity
Select item 219388	NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala)	SH3TC2 (V230A)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 193930	NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His)	SH3TC2 (R621H)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 188089	NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)	SH3TC2 (D1229V)	Single nucleotide variant (missense variant)	Susceptibility to mononeuropathy of the median nerve, mild +6 more	GConflicting classifications of pathogenicity
Select item 2482	NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)	SH3TC2 (R954*)	Single nucleotide variant (nonsense)	not provided +6 more	GPathogenic/Likely pathogenic

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Items: 37