ClinVar for MedGen (Select 1812978) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1693168	NM_145868.2(ANXA11):c.1335+94A>G	ANXA11	Single nucleotide variant (intron variant)	Inclusion body myopathy and brain white matter abnormalities	GBenign
Select item 1693167	NM_145868.2(ANXA11):c.1458+77C>T	ANXA11	Single nucleotide variant (intron variant)	Inclusion body myopathy and brain white matter abnormalities	GBenign
Select item 1574217	NM_145868.2(ANXA11):c.456C>T (p.Tyr152=)	ANXA11	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1297185	NM_145868.2(ANXA11):c.688C>T (p.Arg230Cys)	ANXA11 (R197C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1294588	NM_145868.2(ANXA11):c.1087-26A>G	ANXA11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1294587	NM_145868.2(ANXA11):c.672T>C (p.Ile224=)	ANXA11	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1289661	NM_145868.2(ANXA11):c.171+95A>G	ANXA11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1283689	NM_145868.2(ANXA11):c.171+19C>T	ANXA11	Single nucleotide variant (intron variant)	Inclusion body myopathy and brain white matter abnormalities +1 more	GBenign
Select item 1283272	NM_145868.2(ANXA11):c.859-62C>T	ANXA11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1282306	NM_145868.2(ANXA11):c.745-30del	ANXA11	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1272819	NM_145868.2(ANXA11):c.858+45G>A	ANXA11	Single nucleotide variant (intron variant)	Inclusion body myopathy and brain white matter abnormalities +1 more	GBenign
Select item 1272053	NM_145868.2(ANXA11):c.859-60C>G	ANXA11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1265566	NM_145868.2(ANXA11):c.1276+80G>T	ANXA11, LOC126860977	Single nucleotide variant (intron variant)	Inclusion body myopathy and brain white matter abnormalities +1 more	GBenign
Select item 1260970	NM_145868.2(ANXA11):c.858+47G>A	ANXA11	Single nucleotide variant (intron variant)	Inclusion body myopathy and brain white matter abnormalities +1 more	GBenign
Select item 1259632	NM_145868.2(ANXA11):c.650-10C>G	ANXA11	Single nucleotide variant (intron variant)	Inclusion body myopathy and brain white matter abnormalities +1 more	GBenign
Select item 1258506	NM_145868.2(ANXA11):c.390C>T (p.Gly130=)	ANXA11	Single nucleotide variant (synonymous variant)	Inclusion body myopathy and brain white matter abnormalities +1 more	GBenign
Select item 1252949	NM_145868.2(ANXA11):c.1030-44A>C	ANXA11	Single nucleotide variant (intron variant)	Inclusion body myopathy and brain white matter abnormalities +1 more	GBenign
Select item 1244057	NM_145868.2(ANXA11):c.1335+15T>C	ANXA11	Single nucleotide variant (intron variant)	Inclusion body myopathy and brain white matter abnormalities +1 more	GBenign
Select item 1243113	NM_145868.2(ANXA11):c.858+42C>T	ANXA11	Single nucleotide variant (intron variant)	Inclusion body myopathy and brain white matter abnormalities +1 more	GBenign
Select item 1243066	NM_145868.2(ANXA11):c.858+42CG[2]	ANXA11	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 1233125	NM_145868.2(ANXA11):c.858+55G>A	ANXA11	Single nucleotide variant (intron variant)	Inclusion body myopathy and brain white matter abnormalities +1 more	GBenign
Select item 1229678	NM_145868.2(ANXA11):c.-8-55G>A	ANXA11	Single nucleotide variant (intron variant)	Inclusion body myopathy and brain white matter abnormalities +1 more	GBenign
Select item 1227948	NM_145868.2(ANXA11):c.572G>A (p.Arg191Gln)	ANXA11 (R158Q +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy and brain white matter abnormalities +1 more	GBenign
Select item 1226414	NM_145868.2(ANXA11):c.950-87C>G	ANXA11	Single nucleotide variant (intron variant)	Inclusion body myopathy and brain white matter abnormalities +1 more	GBenign
Select item 1221406	NM_145868.2(ANXA11):c.55+54G>A	ANXA11	Single nucleotide variant (intron variant)	Inclusion body myopathy and brain white matter abnormalities +1 more	GBenign
Select item 1221404	NM_145868.2(ANXA11):c.1181-5C>T	ANXA11, LOC126860977	Single nucleotide variant (intron variant)	Inclusion body myopathy and brain white matter abnormalities +1 more	GBenign
Select item 802593	NM_145868.2(ANXA11):c.118G>T (p.Asp40Tyr)	ANXA11 (D40Y +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy and brain white matter abnormalities +2 more	GPathogenic/Likely pathogenic

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Items: 27