"PreventionGenetics, part of Exact Sciences"[submitter] AND "REEP1"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 932703	NM_001371279.1(REEP1):c.853T>G (p.Ter285Gly)	REEP1	Single nucleotide variant (3 prime UTR variant +1 more)	REEP1-related disorder +1 more	GUncertain significance
Select item 808784	NM_001371279.1(REEP1):c.843C>T (p.Thr281=)	REEP1	Single nucleotide variant (3 prime UTR variant +1 more)	REEP1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1861	NM_001371279.1(REEP1):c.837G>T (p.Ser279=)	REEP1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia +6 more	GConflicting classifications of pathogenicity
Select item 261634	NM_001371279.1(REEP1):c.784-17T>G	REEP1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 245986	NM_001371279.1(REEP1):c.529C>T (p.Arg177Trp)	REEP1 (R177W +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1155245	NM_001371279.1(REEP1):c.519G>A (p.Pro173=)	REEP1 (R95Q)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 465821	NM_001371279.1(REEP1):c.518C>T (p.Pro173Leu)	REEP1 (P173L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 3030789	NM_001371279.1(REEP1):c.434C>T (p.Ser145Leu)	REEP1 (R67W +3 more)	Single nucleotide variant (missense variant +1 more)	REEP1-related disorder	GUncertain significance
Select item 130108	NM_001371279.1(REEP1):c.285G>A (p.Thr95=)	REEP1	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, type 5B +4 more	GBenign
Select item 2633709	NM_001371279.1(REEP1):c.55C>A (p.Pro19Thr)	REEP1 (P19T +1 more)	Single nucleotide variant (missense variant +1 more)	REEP1-related disorder	GUncertain significance
Select item 2578861	NM_001164730.2(REEP1):c.11T>C (p.Val4Ala)	REEP1 (V4A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance