ClinVar for MedGen (Select 1684324) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377749	NM_153816.6(SNX14):c.739C>G (p.Leu247Val)	SNX14 (L150V +9 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive spinocerebellar ataxia 20	GUncertain significance
Select item 3336800	NM_153816.6(SNX14):c.2506G>T (p.Glu836Ter)	SNX14 (E442* +16 more)	Single nucleotide variant (nonsense +2 more)	Autosomal recessive spinocerebellar ataxia 20	GLikely pathogenic
Select item 2627362	NC_000006.11:g.(86251762_86252899)_(86259598_86267693)dup	SNX14	Duplication	Autosomal recessive spinocerebellar ataxia 20	GLikely pathogenic
Select item 2573004	NM_153816.6(SNX14):c.2148+1G>T	SNX14	Single nucleotide variant (splice donor variant)	Autosomal recessive spinocerebellar ataxia 20	GPathogenic
Select item 2573000	NM_153816.6(SNX14):c.2746-2A>G	SNX14	Single nucleotide variant (splice acceptor variant +1 more)	Autosomal recessive spinocerebellar ataxia 20	GLikely pathogenic
Select item 2572991	NM_153816.6(SNX14):c.1878del (p.Lys626fs)	SNX14 (K232fs +16 more)	Deletion (frameshift variant +1 more)	Autosomal recessive spinocerebellar ataxia 20	GPathogenic
Select item 2497676	NM_153816.6(SNX14):c.462-589A>G	SNX14	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 20	GLikely pathogenic
Select item 2433658	NM_153816.6(SNX14):c.44_45del (p.Arg15fs)	SNX14 (R15fs)	Deletion (frameshift variant +3 more)	Autosomal recessive spinocerebellar ataxia 20	GLikely pathogenic
Select item 1989055	NM_153816.6(SNX14):c.1996-12dup	SNX14	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1326011	NM_153816.6(SNX14):c.572C>A (p.Thr191Asn)	SNX14 (T138N +9 more)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GUncertain significance
Select item 1325109	NM_153816.6(SNX14):c.252C>G (p.Tyr84Ter)	SNX14 (Y105* +2 more)	Single nucleotide variant (nonsense +2 more)	Autosomal recessive spinocerebellar ataxia 20 +2 more	GPathogenic/Likely pathogenic
Select item 1297473	NM_153816.6(SNX14):c.295C>T (p.His99Tyr)	SNX14 (H120Y +4 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive spinocerebellar ataxia 20	GUncertain significance
Select item 1033174	NM_153816.6(SNX14):c.2395C>T (p.Arg799Trp)	SNX14 (R651W +16 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1031243	NM_153816.6(SNX14):c.140+9G>A	SNX14	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 20	GUncertain significance
Select item 1031242	NM_153816.6(SNX14):c.131T>C (p.Leu44Pro)	SNX14 (L44P)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive spinocerebellar ataxia 20	GUncertain significance
Select item 1031241	NM_153816.6(SNX14):c.119C>T (p.Ala40Val)	SNX14 (A40V)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive spinocerebellar ataxia 20	GUncertain significance
Select item 1027833	NM_153816.6(SNX14):c.913C>A (p.Pro305Thr)	SNX14 (P205T +11 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive spinocerebellar ataxia 20	GUncertain significance
Select item 1027832	NM_153816.6(SNX14):c.2674G>A (p.Gly892Ser)	SNX14 (G837S +18 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 20	GUncertain significance
Select item 1027831	NM_153816.6(SNX14):c.2410G>A (p.Val804Ile)	SNX14 (V410I +16 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive spinocerebellar ataxia 20 +1 more	GConflicting classifications of pathogenicity
Select item 931533	NM_153816.6(SNX14):c.1300C>T (p.Gln434Ter)	SNX14 (Q334* +13 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive spinocerebellar ataxia 20	GLikely pathogenic
Select item 802248	NM_153816.6(SNX14):c.1608+1G>T	SNX14	Single nucleotide variant (splice donor variant)	Autosomal recessive spinocerebellar ataxia 20	GPathogenic
Select item 800777	NM_153816.6(SNX14):c.1725del (p.Phe575fs)	SNX14 (F181fs +16 more)	Deletion (frameshift variant +1 more)	Autosomal recessive spinocerebellar ataxia 20	GLikely pathogenic
Select item 800741	NM_153816.6(SNX14):c.1809A>G (p.Ala603=)	SNX14	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 20 +1 more	GUncertain significance
Select item 635072	NM_153816.6(SNX14):c.303T>A (p.Cys101Ter)	SNX14 (C101* +4 more)	Single nucleotide variant (nonsense +2 more)	Autosomal recessive spinocerebellar ataxia 20	GLikely pathogenic
Select item 548562	NM_153816.6(SNX14):c.2447G>A (p.Arg816Gln)	SNX14 (R816Q +16 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive spinocerebellar ataxia 20	GUncertain significance
Select item 522726	NM_153816.6(SNX14):c.331C>T (p.Arg111Ter)	SNX14 (R111* +4 more)	Single nucleotide variant (nonsense +2 more)	Autosomal recessive spinocerebellar ataxia 20	GPathogenic
Select item 422470	NM_153816.6(SNX14):c.2557+1G>A	SNX14	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 419155	NM_153816.6(SNX14):c.2764_2770del (p.Leu921_Asp922insTer)	SNX14	Deletion (nonsense +2 more)	Autosomal recessive spinocerebellar ataxia 20 +1 more	GConflicting classifications of pathogenicity
Select item 375550	NM_153816.6(SNX14):c.1707_1708insTTTTTTTTTTT (p.Pro570fs)	SNX14 (P560fs +16 more)	Insertion (frameshift variant +1 more)	Autosomal recessive spinocerebellar ataxia 20	GPathogenic
Select item 374216	NC_012920.1:m.14771C>A	MT-CYB	Single nucleotide variant	Autosomal recessive spinocerebellar ataxia 20	GUncertain significance
Select item 373031	NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter)	SNX14 (E370* +12 more)	Single nucleotide variant (nonsense +3 more)	not provided +1 more	GPathogenic
Select item 268133	NM_153816.6(SNX14):c.1108G>A (p.Glu370Lys)	SNX14 (E370K +12 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive spinocerebellar ataxia 20	GPathogenic
Select item 190320	NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer)	SNX14	Deletion (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 190319	NM_153816.6(SNX14):c.428T>A (p.Leu143Ter)	SNX14 (L143* +4 more)	Single nucleotide variant (nonsense +3 more)	Autosomal recessive spinocerebellar ataxia 20	GPathogenic
Select item 190318	NM_153816.6(SNX14):c.1132C>T (p.Arg378Ter)	SNX14 (R378* +12 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 190317	NM_153816.6(SNX14):c.1894+1G>T	SNX14	Single nucleotide variant (splice donor variant)	SNX14-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 190316	NM_153816.6(SNX14):c.645dup (p.Glu216fs)	SNX14 (E120fs +9 more)	Duplication (frameshift variant +3 more)	Autosomal recessive spinocerebellar ataxia 20	GPathogenic
Select item 190315	NM_153816.2(SNX14):c.1108+1181_2108-2342del	SNX14	Deletion	Autosomal recessive spinocerebellar ataxia 20	GPathogenic
Select item 190314	NM_153816.6(SNX14):c.2596C>T (p.Gln866Ter)	SNX14 (Q866* +18 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive spinocerebellar ataxia 20	GPathogenic

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Items: 39