ClinVar for MedGen (Select 767288) - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362365	NM_001313726.2(ANO3):c.58C>T (p.His20Tyr)	ANO3 (H20Y)	Single nucleotide variant (missense variant)	Dystonia 24	GPathogenic
Select item 3338250	NM_031418.4(ANO3):c.787A>G (p.Met263Val)	ANO3 (M117V +2 more)	Single nucleotide variant (missense variant)	Dystonia 24	GLikely benign
Select item 3251964	NM_031418.4(ANO3):c.2090T>A (p.Val697Asp)	ANO3 (V551D +2 more)	Single nucleotide variant (missense variant)	Dystonia 24	GUncertain significance
Select item 2584568	NM_031418.4(ANO3):c.944G>A (p.Arg315His)	ANO3 (R169H +2 more)	Single nucleotide variant (missense variant)	Dystonia 24	GUncertain significance
Select item 2439111	NM_031418.4(ANO3):c.2858T>C (p.Val953Ala)	ANO3 (V1014A +2 more)	Single nucleotide variant (missense variant)	Dystonia 24	GUncertain significance
Select item 2439110	NM_031418.4(ANO3):c.827C>G (p.Ser276Ter)	ANO3 (S130* +2 more)	Single nucleotide variant (nonsense)	Dystonia 24	GUncertain significance
Select item 2439109	NM_031418.4(ANO3):c.160A>G (p.Thr54Ala)	ANO3 (T115A +1 more)	Single nucleotide variant (missense variant)	Dystonia 24	GUncertain significance
Select item 2439108	NM_031418.4(ANO3):c.972del (p.Val325fs)	ANO3 (V179fs +2 more)	Deletion (frameshift variant)	Dystonia 24	GUncertain significance
Select item 1986112	NM_031418.4(ANO3):c.1585C>A (p.Pro529Thr)	ANO3 (P383T +2 more)	Single nucleotide variant (missense variant)	Dystonia 24 +1 more	GUncertain significance
Select item 1804916	NM_031418.4(ANO3):c.2306T>C (p.Val769Ala)	ANO3 (V623A +2 more)	Single nucleotide variant (missense variant)	Dystonia 24	GUncertain significance
Select item 1709837	NM_031418.4(ANO3):c.1714C>T (p.Arg572Cys)	ANO3 (R426C +2 more)	Single nucleotide variant (missense variant)	Dystonia 24	GUncertain significance
Select item 1700707	NM_031418.4(ANO3):c.1699G>A (p.Gly567Arg)	ANO3 (G421R +2 more)	Single nucleotide variant (missense variant)	See cases +2 more	GConflicting classifications of pathogenicity
Select item 1696661	NM_031418.4(ANO3):c.702C>A (p.Cys234Ter)	ANO3 (C234* +2 more)	Single nucleotide variant (nonsense)	Dystonia 24	GUncertain significance
Select item 1628158	NM_031418.4(ANO3):c.2275+20dup	ANO3	Duplication (intron variant)	Dystonic disorder +1 more	GBenign
Select item 1290451	NM_031418.4(ANO3):c.2658-56T>C	ANO3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1288536	NM_031418.4(ANO3):c.1290-13G>T	ANO3	Single nucleotide variant (intron variant)	Dystonic disorder +2 more	GBenign
Select item 1288299	NM_031418.4(ANO3):c.1290-56T>C	ANO3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1280882	NM_031418.4(ANO3):c.1290-19G>T	ANO3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1278043	NM_031418.4(ANO3):c.1290-25G>T	ANO3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1275538	NM_031418.4(ANO3):c.738-50T>C	ANO3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1274752	NM_031418.4(ANO3):c.1290-19del	ANO3	Deletion (intron variant)	Dystonic disorder +2 more	GBenign
Select item 1269815	NM_031418.4(ANO3):c.738-73T>A	ANO3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1267792	NM_031418.4(ANO3):c.1290-7del	ANO3	Deletion (intron variant)	Dystonic disorder +2 more	GBenign
Select item 1265553	NM_031418.4(ANO3):c.1033-30A>T	ANO3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1261983	NM_031418.4(ANO3):c.1154+37T>G	ANO3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1259874	NM_031418.4(ANO3):c.738-56T>A	ANO3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1259446	NM_031418.4(ANO3):c.1448-40T>C	ANO3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1254531	NM_031418.4(ANO3):c.1290-13del	ANO3	Deletion (intron variant)	Dystonia 24 +2 more	GBenign
Select item 1249245	NM_031418.4(ANO3):c.46+83G>T	ANO3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1243722	NM_031418.4(ANO3):c.1447+57AC[18]	ANO3, MUC15	Microsatellite (intron variant +1 more)	Dystonia 24 +1 more	GBenign
Select item 1228643	NM_031418.4(ANO3):c.1447+57AC[21]	ANO3, MUC15	Microsatellite (intron variant +1 more)	not provided +1 more	GBenign
Select item 1204825	NM_031418.4(ANO3):c.1836+19A>G	ANO3	Single nucleotide variant (intron variant)	Dystonia 24 +2 more	GBenign/Likely benign
Select item 1202891	NM_031418.4(ANO3):c.1032+15C>T	ANO3	Single nucleotide variant (intron variant)	Dystonia 24 +2 more	GBenign/Likely benign
Select item 1191457	NM_031418.4(ANO3):c.1290-14del	ANO3	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1182825	NM_031418.4(ANO3):c.977-80T>C	ANO3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1181137	NM_031418.4(ANO3):c.2043+97C>G	ANO3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1180901	NM_031418.4(ANO3):c.2657+44A>T	ANO3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1175490	NM_031418.4(ANO3):c.2142-49A>G	ANO3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1167539	NM_031418.4(ANO3):c.2682C>T (p.Pro894=)	ANO3	Single nucleotide variant (synonymous variant)	Dystonic disorder +2 more	GBenign
Select item 1166341	NM_031418.4(ANO3):c.1989C>T (p.Phe663=)	ANO3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1166103	NM_031418.4(ANO3):c.1692A>C (p.Ala564=)	ANO3	Single nucleotide variant (synonymous variant)	Dystonic disorder +2 more	GBenign
Select item 1166102	NM_031418.4(ANO3):c.1158A>G (p.Leu386=)	ANO3	Single nucleotide variant (synonymous variant)	Dystonic disorder +2 more	GBenign
Select item 1164292	NM_031418.4(ANO3):c.1671+9T>C	ANO3	Single nucleotide variant (intron variant)	Dystonic disorder +2 more	GBenign
Select item 1049759	NM_031418.4(ANO3):c.1231A>G (p.Ile411Val)	ANO3 (I265V +2 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GBenign
Select item 1007973	NM_031418.4(ANO3):c.2609C>T (p.Ser870Phe)	ANO3 (S724F +2 more)	Single nucleotide variant (missense variant)	Dystonia 24 +2 more	GUncertain significance
Select item 930974	NM_031418.4(ANO3):c.1882C>T (p.Arg628Ter)	ANO3 (R689* +2 more)	Single nucleotide variant (nonsense)	Dystonia 24	GUncertain significance
Select item 807374	NM_031418.4(ANO3):c.1969G>A (p.Ala657Thr)	ANO3 (A718T +2 more)	Single nucleotide variant (missense variant)	Dystonia 24	GLikely pathogenic
Select item 696077	NM_031418.4(ANO3):c.870-7T>C	ANO3	Single nucleotide variant (intron variant)	Dystonia 24 +2 more	GBenign
Select item 695983	NM_031418.4(ANO3):c.1915C>T (p.Leu639=)	ANO3	Single nucleotide variant (synonymous variant)	Dystonia 24 +2 more	GBenign/Likely benign
Select item 651774	NM_031418.4(ANO3):c.1943A>G (p.Asn648Ser)	ANO3 (N709S +2 more)	Single nucleotide variant (missense variant)	Dystonia 24 +1 more	GLikely pathogenic
Select item 641954	NM_031418.4(ANO3):c.1528G>A (p.Glu510Lys)	ANO3 (E364K +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 575627	NM_031418.4(ANO3):c.743A>C (p.Gln248Pro)	ANO3 (Q248P +2 more)	Single nucleotide variant (missense variant)	Dystonia 24 +1 more	GUncertain significance
Select item 526221	NM_031418.4(ANO3):c.348A>G (p.Ser116=)	ANO3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 455987	NM_031418.4(ANO3):c.1911C>T (p.Phe637=)	ANO3	Single nucleotide variant (synonymous variant)	Dystonia 24 +2 more	GBenign
Select item 455986	NM_031418.4(ANO3):c.1807A>G (p.Asn603Asp)	ANO3 (N603D +2 more)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GUncertain significance
Select item 412872	NM_031418.4(ANO3):c.164C>T (p.Ser55Phe)	ANO3 (S116F +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 412871	NM_031418.4(ANO3):c.2817A>G (p.Pro939=)	ANO3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 412870	NM_031418.4(ANO3):c.714C>T (p.Asp238=)	ANO3	Single nucleotide variant (synonymous variant)	Dystonia 24 +2 more	GBenign/Likely benign
Select item 412869	NM_031418.4(ANO3):c.977-6T>C	ANO3	Single nucleotide variant (intron variant)	Dystonic disorder +2 more	GBenign
Select item 412868	NM_031418.4(ANO3):c.2811C>T (p.Asp937=)	ANO3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 412867	NM_031418.4(ANO3):c.1290-5_1290-4del	ANO3	Microsatellite (intron variant)	Dystonic disorder +2 more	GBenign/Likely benign
Select item 241616	NM_031418.4(ANO3):c.1968C>T (p.Ile656=)	ANO3	Single nucleotide variant (synonymous variant)	Dystonic disorder +2 more	GBenign/Likely benign
Select item 39499	NM_031418.4(ANO3):c.2586G>T (p.Lys862Asn)	ANO3 (K862N +2 more)	Single nucleotide variant (missense variant)	Dystonia 24	GPathogenic
Select item 39498	NM_031418.4(ANO3):c.2053A>G (p.Ser685Gly)	ANO3 (S685G +2 more)	Single nucleotide variant (missense variant)	Dystonia 24	GPathogenic
Select item 39497	NM_031418.4(ANO3):c.1470G>T (p.Trp490Cys)	ANO3 (W490C +2 more)	Single nucleotide variant (missense variant)	Dystonia 24	GPathogenic
Select item 39496	NM_031418.4(ANO3):c.1480A>T (p.Arg494Trp)	ANO3 (R494W +2 more)	Single nucleotide variant (missense variant)	Dystonia 24	GPathogenic

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Items: 66