ClinVar for MedGen (Select 1676575) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338459	GRCh37/hg19 11q12.1(chr11:57003258-57596656)x3	APLNR, BTBD18 +20 more	Copy number gain	Pontocerebellar hypoplasia type 10	GLikely pathogenic
Select item 2585595	NM_006831.3(CLP1):c.1214C>T (p.Ala405Val)	CLP1 (A341V +1 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 10	GUncertain significance
Select item 2503502	NM_006831.3(CLP1):c.784C>G (p.Leu262Val)	CLP1 (L198V +1 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 10	GUncertain significance
Select item 2440148	NM_006831.3(CLP1):c.293C>G (p.Thr98Arg)	CLP1 (T98R)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 10	GUncertain significance
Select item 1032495	NM_006831.3(CLP1):c.159_161del (p.Lys54del)	CLP1 (K54del)	Deletion (inframe_deletion)	Pontocerebellar hypoplasia type 10	GUncertain significance
Select item 1030162	NM_006831.3(CLP1):c.427C>T (p.Arg143Cys)	CLP1 (R143C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1030161	NM_006831.3(CLP1):c.422T>A (p.Leu141Ter)	CLP1 (L141*)	Single nucleotide variant (nonsense +1 more)	Pontocerebellar hypoplasia type 10	GUncertain significance
Select item 1030160	NM_006831.3(CLP1):c.310C>G (p.Arg104Gly)	CLP1 (R104G)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 10	GUncertain significance
Select item 1030159	NM_006831.3(CLP1):c.178G>T (p.Gly60Cys)	CLP1 (G60C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 143934	NM_006831.3(CLP1):c.419G>A (p.Arg140His)	CLP1 (R140H)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 10 +1 more	GPathogenic/Likely pathogenic