ClinVar for MedGen (Select 1645224) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2688867	NM_000755.5(CRAT):c.654_655del (p.His218fs)	CRAT (H178fs +3 more)	Microsatellite (frameshift variant)	Neurodegeneration with brain iron accumulation 8	GUncertain significance
Select item 2688866	NM_000755.5(CRAT):c.1738C>T (p.Pro580Ser)	CRAT (P535S +5 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 8	GUncertain significance
Select item 1640077	NM_000755.5(CRAT):c.1452C>T (p.Asp484=)	CRAT	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 8 +1 more	GBenign/Likely benign
Select item 1598967	NM_000755.5(CRAT):c.1797C>T (p.Asn599=)	CRAT	Single nucleotide variant (synonymous variant)	Neurodegeneration with brain iron accumulation 8 +1 more	GBenign/Likely benign
Select item 1167064	NM_000755.5(CRAT):c.984+9C>T	CRAT	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 8 +1 more	GBenign
Select item 1167063	NM_000755.5(CRAT):c.1114C>A (p.Leu372Met)	CRAT (L332M +3 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 8 +1 more	GBenign
Select item 1061101	NM_000755.5(CRAT):c.817C>T (p.Arg273Trp)	CRAT (R233W +3 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 8 +1 more	GUncertain significance
Select item 684522	NM_000755.5(CRAT):c.830G>A (p.Arg277His)	CRAT (R256H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 503495	NM_000755.5(CRAT):c.962G>A (p.Arg321His)	CRAT (R321H +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity