Related gene-specific medical variations for Gene (Select 79628) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065224	NM_024577.4(SH3TC2):c.2402G>A (p.Cys801Tyr)	SH3TC2 (C801Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4C	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 2689961	NM_024577.4(SH3TC2):c.2560A>G (p.Arg854Gly)	SH3TC2 (R854G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684377	NM_024577.4(SH3TC2):c.1473C>A (p.Phe491Leu)	SH3TC2 (F491L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684376	NM_024577.4(SH3TC2):c.1472_1474del (p.Phe491del)	SH3TC2 (F491del)	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 2663847	NM_024577.4(SH3TC2):c.1834G>T (p.Glu612Ter)	SH3TC2 (E612*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4C	GLikely 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 2435919	NM_024577.4(SH3TC2):c.1926_1927delinsTT (p.Leu642_Leu643delinsPhePhe)	SH3TC2	Indel (missense variant)	not provided	GUncertain significance
Select item 1807113	NM_024577.4(SH3TC2):c.2339T>C (p.Leu780Pro)	SH3TC2 (L780P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801391	NM_024577.4(SH3TC2):c.3675+505_3675+604del	SH3TC2	Deletion (intron variant)	Schizophrenia	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 1256317	NM_024577.4(SH3TC2):c.1196T>G (p.Phe399Cys)	SH3TC2 (F399C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1120206	NM_024577.4(SH3TC2):c.233_239del (p.Leu78fs)	SH3TC2 (L78fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4C	GPathogenic
Select item 987160	NM_024577.4(SH3TC2):c.530-2A>T	SH3TC2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 907802	NM_024577.4(SH3TC2):c.*20230G>T	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 907801	NM_024577.4(SH3TC2):c.*20400A>C	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 906866	NM_024577.4(SH3TC2):c.*19552G>T	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 906865	NM_024577.4(SH3TC2):c.*19631T>A	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 906806	NM_024577.4(SH3TC2):c.*20512C>A	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GLikely benign
Select item 906805	NM_024577.4(SH3TC2):c.*20553A>G	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 905266	NM_024577.4(SH3TC2):c.*20086A>G	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 905265	NM_024577.4(SH3TC2):c.*20099T>C	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GLikely benign
Select item 905217	NM_024577.4(SH3TC2):c.*20618C>T	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 904483	NM_024577.4(SH3TC2):c.*20135C>T	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 904482	NM_024577.4(SH3TC2):c.*20207C>T	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GBenign
Select item 694978	NM_024577.4(SH3TC2):c.280-1334dup	SH3TC2	Duplication (intron variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694976	NM_024577.4(SH3TC2):c.1002-8del	SH3TC2	Deletion (intron variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 694974	NM_024577.4(SH3TC2):c.1894G>A (p.Glu632Lys)	SH3TC2 (E632K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 694973	NM_024577.4(SH3TC2):c.2015del (p.Val672fs)	SH3TC2 (V672fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 694972	NM_024577.4(SH3TC2):c.2228C>G (p.Ala743Gly)	SH3TC2 (A743G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694971	NM_024577.4(SH3TC2):c.2696T>C (p.Leu899Pro)	SH3TC2 (L899P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 694970	NM_024577.4(SH3TC2):c.3292A>C (p.Thr1098Pro)	SH3TC2 (T1098P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +2 more	GUncertain significance
Select item 694969	NM_024577.4(SH3TC2):c.3295dup (p.Arg1099fs)	SH3TC2 (R1099fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694968	NM_024577.4(SH3TC2):c.*861dup	SH3TC2	Duplication (3 prime UTR variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 694967	NM_024577.4(SH3TC2):c.858_862del	SH3TC2	Deletion (3 prime UTR variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637956	NM_024577.4(SH3TC2):c.58G>T (p.Glu20Ter)	SH3TC2 (E20*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4C	GPathogenic
Select item 618873	NM_024577.4(SH3TC2):c.3712C>A (p.Leu1238Met)	SH3TC2 (L1238M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 351593	NM_024577.4(SH3TC2):c.*19919T>C	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GBenign
Select item 351592	NM_024577.4(SH3TC2):c.*19989G>A	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Mononeuropathy of the Median Nerve +1 more	GUncertain significance
Select item 351591	NM_024577.4(SH3TC2):c.*20142A>G	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GBenign/Likely benign
Select item 351590	NM_024577.4(SH3TC2):c.*20166T>A	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GBenign
Select item 351589	NM_024577.4(SH3TC2):c.*20362T>C	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 351588	NM_024577.4(SH3TC2):c.*20412A>T	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 351587	NM_024577.4(SH3TC2):c.*20463T>C	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GBenign
Select item 351586	NM_024577.4(SH3TC2):c.*20469C>T	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
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

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Links from Gene

Items: 49