"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SH3TC2"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 220408	NM_024577.4(SH3TC2):c.3154C>T (p.Arg1052Ter)	SH3TC2 (R1052*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4 +4 more	GPathogenic
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 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 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 476899	NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val)	SH3TC2 (G843V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +4 more	GConflicting classifications of pathogenicity
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 407263	NM_024577.4(SH3TC2):c.2348C>T (p.Ala783Val)	SH3TC2 (A783V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +3 more	GUncertain significance
Select item 193931	NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg)	SH3TC2 (H696R)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 21690	NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)	SH3TC2 (R658C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4C +5 more	GPathogenic/Likely pathogenic
Select item 21689	NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)	SH3TC2 (E657K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4C +3 more	GPathogenic/Likely pathogenic
Select item 216738	NM_024577.4(SH3TC2):c.1585_1587delinsTGG (p.Arg529Trp)	SH3TC2 (R529W)	Indel (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GLikely pathogenic
Select item 637510	NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter)	SH3TC2 (Q460*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4 +2 more	GPathogenic/Likely pathogenic
Select item 640103	NM_024577.4(SH3TC2):c.559G>A (p.Val187Met)	SH3TC2 (V187M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +3 more	GUncertain significance
Select item 407269	NM_024577.4(SH3TC2):c.517C>A (p.Leu173Met)	SH3TC2 (L173M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +5 more	GConflicting classifications of pathogenicity
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 650536	NM_024577.4(SH3TC2):c.224G>A (p.Arg75Gln)	SH3TC2 (R75Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance