ClinVar for MedGen (Select 375311) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2437114	NM_001114748.2(TMEM240):c.217G>A (p.Ala73Thr)	TMEM240 (A73T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 21	GUncertain significance
Select item 2437113	NM_001114748.2(TMEM240):c.328G>A (p.Val110Ile)	TMEM240 (V110I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2412693	NM_001114748.2(TMEM240):c.47C>A (p.Ser16Ter)	TMEM240 (S16*)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia type 21	GUncertain significance
Select item 2158528	NM_001114748.2(TMEM240):c.265G>A (p.Asp89Asn)	TMEM240 (D89N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1355911	NM_001114748.2(TMEM240):c.35T>C (p.Ile12Thr)	TMEM240 (I12T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 21 +2 more	GUncertain significance
Select item 1027486	NM_001114748.2(TMEM240):c.419T>A (p.Leu140Gln)	TMEM240 (L140Q)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 21	GLikely pathogenic
Select item 523023	NM_001114748.2(TMEM240):c.343G>A (p.Val115Met)	TMEM240 (V115M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 372833	NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg)	TMEM240 (G66R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 161196	NM_001114748.2(TMEM240):c.511C>T (p.Arg171Trp)	TMEM240 (R171W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 161195	NM_001114748.2(TMEM240):c.239C>T (p.Thr80Met)	TMEM240 (T80M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 161194	NM_001114748.2(TMEM240):c.346C>T (p.Arg116Cys)	TMEM240 (R116C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 161193	NM_001114748.2(TMEM240):c.489C>G (p.Tyr163Ter)	TMEM240 (Y163*)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia type 21	GPathogenic
Select item 161192	NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)	TMEM240 (P170L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic