"Revvity Omics, Revvity"[submitter] AND "SH3TC2"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 448370	NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys)	SH3TC2 (R1171C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +4 more	GPathogenic/Likely pathogenic
Select item 2483	NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)	SH3TC2 (R1109*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease +4 more	GPathogenic
Select item 220822	NM_024577.4(SH3TC2):c.3303del (p.Arg1101fs)	SH3TC2 (R1101fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
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 476903	NM_024577.4(SH3TC2):c.3034C>T (p.Arg1012Trp)	SH3TC2 (R1012W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1040016	NM_024577.4(SH3TC2):c.3017C>T (p.Ser1006Phe)	SH3TC2 (S1006F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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 +7 more	GPathogenic/Likely pathogenic
Select item 2435920	NM_024577.4(SH3TC2):c.2644C>T (p.Leu882Phe)	SH3TC2 (L882F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689961	NM_024577.4(SH3TC2):c.2560A>G (p.Arg854Gly)	SH3TC2 (R854G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689962	NM_024577.4(SH3TC2):c.2110A>T (p.Met704Leu)	SH3TC2 (M704L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 21690	NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)	SH3TC2 (R658C)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 2435919	NM_024577.4(SH3TC2):c.1926_1927delinsTT (p.Leu642_Leu643delinsPhePhe)	SH3TC2	Indel (missense variant)	not provided	GUncertain significance
Select item 450992	NM_024577.4(SH3TC2):c.1840G>A (p.Asp614Asn)	SH3TC2 (D614N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 1323592	NM_024577.4(SH3TC2):c.1737C>A (p.Tyr579Ter)	SH3TC2 (Y579*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2478	NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His)	SH3TC2 (R529H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2181432	NM_024577.4(SH3TC2):c.1347C>A (p.Asp449Glu)	SH3TC2 (D449E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 1983610	NM_024577.4(SH3TC2):c.323A>G (p.Gln108Arg)	SH3TC2 (Q108R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 699268	NM_024577.4(SH3TC2):c.254A>T (p.Asp85Val)	SH3TC2 (D85V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 663872	NM_024577.4(SH3TC2):c.8G>A (p.Gly3Asp)	SH3TC2 (G3D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance