"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 973834	NM_014844.5(TECPR2):c.566C>T (p.Thr189Ile)	TECPR2 (T189I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 978471	NM_014844.5(TECPR2):c.571C>T (p.Gln191Ter)	TECPR2 (Q191*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 49	GPathogenic/Likely pathogenic
Select item 996006	NM_014844.5(TECPR2):c.694dup (p.Thr232fs)	TECPR2 (T232fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 49	GLikely pathogenic
Select item 863424	NM_014844.5(TECPR2):c.715G>A (p.Gly239Arg)	TECPR2 (G239R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 450815	NM_014844.5(TECPR2):c.774del (p.Asp259fs)	TECPR2 (D259fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 49 +1 more	GPathogenic/Likely pathogenic
Select item 450814	NM_014844.5(TECPR2):c.1028_1032del (p.Lys343fs)	TECPR2 (K343fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 374308	NM_014844.5(TECPR2):c.1319del (p.Leu440fs)	TECPR2 (L440fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 380957	NM_014844.5(TECPR2):c.2050C>G (p.Leu684Val)	TECPR2 (L684V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 967521	NM_014844.5(TECPR2):c.2708C>T (p.Thr903Met)	TECPR2 (T903M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 973501	NM_014844.5(TECPR2):c.2829del (p.Asn944fs)	TECPR2 (N944fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 49	GPathogenic/Likely pathogenic
Select item 972900	NM_014844.5(TECPR2):c.2998G>T (p.Asp1000Tyr)	TECPR2 (D1000Y)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 39675	NM_014844.5(TECPR2):c.3416del (p.Leu1139fs)	TECPR2 (L1139fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 972711	NM_014844.5(TECPR2):c.3418T>G (p.Trp1140Gly)	TECPR2 (W1140G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 977489	NM_014844.5(TECPR2):c.3830del (p.Asn1277fs)	TECPR2 (N1277fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 49	GLikely pathogenic
Select item 996005	NM_014844.5(TECPR2):c.4006C>T (p.Arg1336Trp)	TECPR2 (R1336W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 972713	NM_014844.5(TECPR2):c.4033G>C (p.Ala1345Pro)	TECPR2 (A1345P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 996007	NM_014844.5(TECPR2):c.4103G>A (p.Trp1368Ter)	TECPR2 (W1368*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 49	GLikely pathogenic