ClinVar for MedGen (Select 761340) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065769	NM_152415.3(VPS37A):c.898A>C (p.Lys300Gln)	VPS37A (K210Q +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2990185	NM_152415.3(VPS37A):c.201-10C>T	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2989399	NM_152415.3(VPS37A):c.159A>G (p.Arg53=)	VPS37A	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2919200	NM_152415.3(VPS37A):c.417-20T>C	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2918221	NM_152415.3(VPS37A):c.125+11_125+15del	VPS37A	Deletion (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2913011	NM_152415.3(VPS37A):c.989T>G (p.Leu330Arg)	VPS37A (L330R +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2912292	NM_152415.3(VPS37A):c.545CAA[2] (p.Thr184del)	VPS37A (T159del +2 more)	Microsatellite (inframe_deletion)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2884363	NM_152415.3(VPS37A):c.676G>C (p.Asp226His)	VPS37A (D226H +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2884147	NM_152415.3(VPS37A):c.777G>A (p.Leu259=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2878346	NM_152415.3(VPS37A):c.1191A>G (p.Leu397=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2864011	NM_152415.3(VPS37A):c.865A>C (p.Ser289Arg)	VPS37A (S264R +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2860669	NM_152415.3(VPS37A):c.417-17_417-15del	VPS37A	Microsatellite (intron variant)	Hereditary spastic paraplegia 53	GBenign
Select item 2859660	NM_152415.3(VPS37A):c.600A>T (p.Ser200=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2829538	NM_152415.3(VPS37A):c.915A>G (p.Thr305=)	VPS37A	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2829537	NM_152415.3(VPS37A):c.737A>T (p.Asn246Ile)	VPS37A (N221I +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2822973	NM_152415.3(VPS37A):c.258A>G (p.Ile86Met)	VPS37A (I86M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2818617	NM_152415.3(VPS37A):c.571C>G (p.Pro191Ala)	VPS37A (P101A +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2812149	NM_152415.3(VPS37A):c.801C>T (p.Thr267=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2810998	NM_152415.3(VPS37A):c.817G>A (p.Val273Ile)	VPS37A (V183I +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2770643	NM_152415.3(VPS37A):c.841+19G>T	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2756772	NM_152415.3(VPS37A):c.1113+13C>T	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2753636	NM_152415.3(VPS37A):c.656G>A (p.Gly219Asp)	VPS37A (G194D +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2740450	NM_152415.3(VPS37A):c.438G>A (p.Gly146=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2733498	NM_152415.3(VPS37A):c.975T>C (p.Cys325=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2726718	NM_152415.3(VPS37A):c.163C>A (p.Pro55Thr)	VPS37A (P55T)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2720609	NM_152415.3(VPS37A):c.512C>T (p.Thr171Ile)	VPS37A (T171I +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2719530	NM_152415.3(VPS37A):c.841+12C>T	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2714793	NM_152415.3(VPS37A):c.912T>C (p.Leu304=)	VPS37A	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2694979	NM_152415.3(VPS37A):c.75C>G (p.Leu25=)	VPS37A	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2694964	NM_152415.3(VPS37A):c.1114-18C>T	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2425362	NM_152415.3(VPS37A):c.643-11C>T	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2421066	NM_152415.3(VPS37A):c.417-9T>C	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53 +1 more	GLikely benign
Select item 2415747	NM_152415.3(VPS37A):c.126-16A>C	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2414195	NM_152415.3(VPS37A):c.125+15C>T	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2413407	NM_152415.3(VPS37A):c.685G>T (p.Asp229Tyr)	VPS37A (D139Y +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2335570	NM_152415.3(VPS37A):c.577G>A (p.Ala193Thr)	VPS37A (A168T +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53 +1 more	GUncertain significance
Select item 2243474	NM_152415.3(VPS37A):c.641C>T (p.Pro214Leu)	VPS37A (P189L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2198832	NM_152415.3(VPS37A):c.841+16C>T	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2196563	NM_152415.3(VPS37A):c.827T>C (p.Ile276Thr)	VPS37A (I186T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2195617	NM_152415.3(VPS37A):c.699A>G (p.Glu233=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2195472	NM_152415.3(VPS37A):c.1168C>T (p.His390Tyr)	VPS37A (H365Y +4 more)	Single nucleotide variant (missense variant)	VPS37A-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2194614	NM_152415.3(VPS37A):c.316-19C>T	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2193391	NM_152415.3(VPS37A):c.718T>A (p.Ser240Thr)	VPS37A (S150T +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2187014	NM_152415.3(VPS37A):c.950G>C (p.Arg317Thr)	VPS37A (R292T +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2180040	NM_152415.3(VPS37A):c.32C>G (p.Ala11Gly)	VPS37A (A11G)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2171850	NM_152415.3(VPS37A):c.751G>A (p.Val251Ile)	VPS37A (V161I +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2166324	NM_152415.3(VPS37A):c.215A>G (p.Gln72Arg)	VPS37A (Q72R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2159244	NM_152415.3(VPS37A):c.644C>G (p.Thr215Arg)	VPS37A (T215R +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2153804	NM_152415.3(VPS37A):c.1158G>A (p.Ala386=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2141067	NM_152415.3(VPS37A):c.660T>C (p.Phe220=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2117026	NM_152415.3(VPS37A):c.126-1G>C	VPS37A	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2073574	NM_152415.3(VPS37A):c.821A>G (p.Lys274Arg)	VPS37A (K184R +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2072400	NM_152415.3(VPS37A):c.157A>C (p.Arg53=)	VPS37A	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2062391	NM_152415.3(VPS37A):c.404C>T (p.Thr135Ile)	VPS37A (T135I +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2058516	NM_152415.3(VPS37A):c.901-18T>C	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2047356	NM_152415.3(VPS37A):c.852C>A (p.Leu284=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2046319	NM_152415.3(VPS37A):c.882A>G (p.Arg294=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 1988480	NM_152415.3(VPS37A):c.642+19C>G	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 1977806	NM_152415.3(VPS37A):c.642+7A>G	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 1971245	NM_152415.3(VPS37A):c.261A>G (p.Arg87=)	VPS37A	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 53	GLikely benign
Select item 1949591	NM_152415.3(VPS37A):c.315+11G>A	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 1934058	NM_152415.3(VPS37A):c.735G>A (p.Met245Ile)	VPS37A (M155I +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 1908094	NM_152415.3(VPS37A):c.31G>T (p.Ala11Ser)	VPS37A (A11S)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 1905858	NM_152415.3(VPS37A):c.126-14A>C	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 1806028	NM_152415.3(VPS37A):c.1157C>T (p.Ala386Val)	VPS37A (A290V +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 1721265	NM_152415.3(VPS37A):c.904G>A (p.Glu302Lys)	VPS37A (E212K +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 1637746	NM_152415.3(VPS37A):c.303A>G (p.Pro101=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 1598709	NM_152415.3(VPS37A):c.970-1604A>G	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GBenign
Select item 1591644	NM_152415.3(VPS37A):c.420A>G (p.Leu140=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 1583381	NM_152415.3(VPS37A):c.643-19A>C	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 1523443	NM_152415.3(VPS37A):c.802G>A (p.Asp268Asn)	VPS37A (D178N +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 1516806	NM_152415.3(VPS37A):c.874G>T (p.Ala292Ser)	VPS37A (A202S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 1472602	NM_152415.3(VPS37A):c.560C>T (p.Thr187Ile)	VPS37A (T162I +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 1442811	NM_152415.3(VPS37A):c.417-2A>G	VPS37A	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 1416573	NM_152415.3(VPS37A):c.892T>A (p.Leu298Ile)	VPS37A (L273I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1377072	NC_000008.10:g.(?_16850399)_(20112692_?)dup	CNOT7, CSGALNACT1 +21 more	Duplication	Hereditary spastic paraplegia 53	GUncertain significance
Select item 1348945	NM_152415.3(VPS37A):c.791A>G (p.Gln264Arg)	VPS37A (Q264R +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 1344175	NM_152415.3(VPS37A):c.648C>A (p.Ser216Arg)	VPS37A (S126R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1247255	NM_152415.3(VPS37A):c.1114-26G>C	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53 +1 more	GBenign
Select item 1143174	NM_152415.3(VPS37A):c.162G>A (p.Leu54=)	VPS37A	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 53	GLikely benign
Select item 1139852	NM_152415.3(VPS37A):c.606G>T (p.Leu202=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 1121947	NM_152415.3(VPS37A):c.576C>T (p.Ala192=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 1107859	NM_152415.3(VPS37A):c.642+10G>A	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1081482	NM_152415.3(VPS37A):c.901-9C>G	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 1044520	NM_152415.3(VPS37A):c.812A>G (p.Asp271Gly)	VPS37A (D246G +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53 +1 more	GUncertain significance
Select item 1041314	NM_152415.3(VPS37A):c.745G>A (p.Glu249Lys)	VPS37A (E224K +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 1036357	NM_152415.3(VPS37A):c.451G>T (p.Ala151Ser)	VPS37A (A126S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 1035635	NM_152415.3(VPS37A):c.642G>A (p.Pro214=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 1029198	NM_152415.3(VPS37A):c.215A>T (p.Gln72Leu)	VPS37A (Q47L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 1011549	NM_152415.3(VPS37A):c.424A>G (p.Ser142Gly)	VPS37A (S117G +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 971130	NM_152415.3(VPS37A):c.424A>T (p.Ser142Cys)	VPS37A (S117C +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 963171	NM_152415.3(VPS37A):c.623C>T (p.Thr208Ile)	VPS37A (T208I +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 951685	NM_152415.3(VPS37A):c.416+3A>G	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 863407	NM_152415.3(VPS37A):c.296C>A (p.Thr99Asn)	VPS37A (T74N +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 860233	NM_152415.3(VPS37A):c.1165A>T (p.Met389Leu)	VPS37A (M364L +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 859167	NM_152415.3(VPS37A):c.532A>C (p.Thr178Pro)	VPS37A (T178P +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 845714	NM_152415.3(VPS37A):c.625G>A (p.Val209Met)	VPS37A (V119M +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 844222	NM_152415.3(VPS37A):c.526G>A (p.Ala176Thr)	VPS37A (A151T +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 779035	NM_152415.3(VPS37A):c.642+9C>T	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 734676	NM_152415.3(VPS37A):c.72C>T (p.Ser24=)	VPS37A	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 53	GLikely benign

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