ClinVar for MedGen (Select 766570) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442146	NM_001371279.1(REEP1):c.683A>C (p.Gln228Pro)	REEP1 (Q216P +1 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 5B	GUncertain significance
Select item 2442048	NM_001371279.1(REEP1):c.160T>G (p.Phe54Val)	REEP1 (F27V +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 5B	GUncertain significance
Select item 1694461	NM_001164730.2(REEP1):c.40dup (p.Arg14fs)	REEP1 (R14fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 31 +1 more	GPathogenic
Select item 1290967	NM_001371279.1(REEP1):c.105+26C>T	REEP1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1290966	NM_001371279.1(REEP1):c.417+45T>C	REEP1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1290965	NM_001371279.1(REEP1):c.33-23A>C	REEP1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1184484	NM_001371279.1(REEP1):c.67T>C (p.Ser23Pro)	REEP1 (S23P +1 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 5B	GLikely pathogenic
Select item 1172760	NM_001371279.1(REEP1):c.248del (p.Gly83fs)	REEP1 (G56fs +2 more)	Deletion (frameshift variant +1 more)	Neuronopathy, distal hereditary motor, type 5B	GLikely pathogenic
Select item 1092988	NM_001371279.1(REEP1):c.537C>T (p.Ser179=)	REEP1 (A101V)	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 31 +1 more	GConflicting classifications of pathogenicity
Select item 1029867	NM_001371279.1(REEP1):c.206A>C (p.Lys69Thr)	REEP1 (K69T +2 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 5B	GUncertain significance
Select item 857719	NM_001371279.1(REEP1):c.164C>A (p.Thr55Lys)	REEP1 (T55K +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 474263	NM_001003800.2(BICD2):c.1687G>A (p.Gly563Arg)	BICD2 (G563R)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely benign
Select item 130108	NM_001371279.1(REEP1):c.285G>A (p.Thr95=)	REEP1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 31 +4 more	GBenign
Select item 35598	NM_001371279.1(REEP1):c.304-2A>G	REEP1	Single nucleotide variant (splice acceptor variant +1 more)	Neuronopathy, distal hereditary motor, type 5B	GPathogenic
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 31 +5 more	GConflicting classifications of pathogenicity