Related gene-specific medical variations for Gene (Select 65055) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237473	NM_001371279.1(REEP1):c.248G>T (p.Gly83Val)	REEP1 (G56V +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31	GLikely pathogenic
Select item 2684009	NM_001371279.1(REEP1):c.161del (p.Phe54fs)	REEP1 (F27fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2627918	NM_001371279.1(REEP1):c.44G>T (p.Gly15Val)	REEP1 (G15V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31	GLikely pathogenic
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 1807102	NM_001371279.1(REEP1):c.786_787insAA (p.Pro263fs)	REEP1 (P122fs +5 more)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 1325003	NM_001371279.1(REEP1):c.304-1G>A	REEP1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 1256311	NM_001371279.1(REEP1):c.450dup (p.Phe151fs)	REEP1 (F124fs +3 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1184968	NM_001371279.1(REEP1):c.72del (p.Ser23_Tyr24insTer)	REEP1	Deletion (nonsense +1 more)	not provided	GPathogenic
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 994782	NM_001371279.1(REEP1):c.499C>T (p.Pro167Ser)	REEP1 (P140S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 994781	NM_001371279.1(REEP1):c.*82G>A	REEP1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 989233	NC_000002.11:g.(86491165_86509292)_(86509366_86565146)del	REEP1	Deletion	Hereditary spastic paraplegia 31	GPathogenic
Select item 989230	NM_001371279.1(REEP1):c.418-1G>A	REEP1	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary spastic paraplegia 31	GPathogenic
Select item 989229	NM_001371279.1(REEP1):c.299_303del (p.Glu100fs)	REEP1 (E100fs +2 more)	Microsatellite (frameshift variant +1 more)	Hereditary spastic paraplegia 31	GPathogenic
Select item 989228	NM_001371279.1(REEP1):c.260T>G (p.Leu87Arg)	REEP1 (L60R +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31	GPathogenic
Select item 989227	NM_001371279.1(REEP1):c.249del (p.Ser84fs)	REEP1 (S57fs +2 more)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 31	GPathogenic
Select item 989226	NM_001371279.1(REEP1):c.182+5G>C	REEP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 31	GPathogenic
Select item 989225	NM_001371279.1(REEP1):c.166G>C (p.Asp56His)	REEP1 (D29H +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 31	GPathogenic
Select item 989224	NM_001371279.1(REEP1):c.106-4A>G	REEP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 31 +1 more	GConflicting classifications of pathogenicity
Select item 989223	NM_001371279.1(REEP1):c.105+471_105+472insA	REEP1	Insertion (intron variant)	Hereditary spastic paraplegia 31	GPathogenic
Select item 989222	NM_001371279.1(REEP1):c.74dup (p.Ala26fs)	REEP1 (A26fs +1 more)	Duplication (frameshift variant +1 more)	Hereditary spastic paraplegia 31	GPathogenic
Select item 989221	NM_001371279.1(REEP1):c.56C>T (p.Pro19Leu)	REEP1 (P19L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31	GPathogenic
Select item 989085	NM_001371279.1(REEP1):c.419G>T (p.Gly140Val)	REEP1 (D62Y +3 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 989084	NM_001371279.1(REEP1):c.145A>C (p.Thr49Pro)	REEP1 (T22P +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 989021	NC_000002.11:g.(?_86444222)_(86565200_?)del	REEP1	Deletion	Hereditary spastic paraplegia 31	GPathogenic
Select item 989020	NC_000002.11:g.(86444234_86459747)_(86459926_86479079)del	REEP1	Deletion	Hereditary spastic paraplegia 31	GPathogenic
Select item 989019	NC_000002.11:g.(86491165_86509292)_(86509366_86565146)dup	REEP1	Duplication	Hereditary spastic paraplegia 31	GUncertain significance
Select item 987187	NM_001371279.1(REEP1):c.501del (p.Ser168fs)	REEP1 (P89fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 986839	NM_001371279.1(REEP1):c.32+1G>T	REEP1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 261634	NM_001371279.1(REEP1):c.784-17T>G	REEP1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 253380	GRCh37/hg19 2p11.2(chr2:86441169-86509452)x3	REEP1	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 32