ClinVar for MedGen (Select 1645924) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1711861	NM_145868.2(ANXA11):c.904C>T (p.Arg302Cys)	ANXA11 (R269C +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 23 +2 more	GUncertain significance
Select item 1706565	NM_145868.2(ANXA11):c.607del (p.Leu203fs)	ANXA11 (L170fs +1 more)	Deletion (frameshift variant)	Amyotrophic lateral sclerosis type 23	GUncertain significance
Select item 1624615	NM_145868.2(ANXA11):c.962C>A (p.Thr321Asn)	ANXA11 (T288N +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 23 +1 more	GBenign/Likely benign
Select item 1447044	NM_145868.2(ANXA11):c.1010_1011delinsAA (p.Leu337Gln)	ANXA11 (L337Q +1 more)	Indel (missense variant)	ANXA11-related disorder +2 more	GUncertain significance
Select item 1398399	NM_145868.2(ANXA11):c.1424G>A (p.Arg475Gln)	ANXA11 (R442Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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
Select item 488355	NM_145868.2(ANXA11):c.523G>A (p.Gly175Arg)	ANXA11 (G175R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 488354	NM_145868.2(ANXA11):c.112G>A (p.Gly38Arg)	ANXA11 (G38R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 488353	NM_145868.2(ANXA11):c.119A>G (p.Asp40Gly)	ANXA11 (D40G +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic