ClinVar for MedGen (Select 442869) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064764	NM_004722.4(AP4M1):c.809T>C (p.Leu270Pro)	AP4M1 (L270P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 3017395	NM_004722.4(AP4M1):c.403C>T (p.Gln135Ter)	AP4M1 (Q135* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 50	GPathogenic
Select item 3016128	NM_004722.4(AP4M1):c.63_64del (p.Asp23fs)	AP4M1 (D23fs)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 50	GPathogenic
Select item 3009752	NM_004722.4(AP4M1):c.192C>G (p.Leu64=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2991850	NM_004722.4(AP4M1):c.58+14T>C	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2976854	NM_004722.4(AP4M1):c.462+15A>G	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2957558	NM_004722.4(AP4M1):c.1138-17G>T	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2955044	NM_004722.4(AP4M1):c.576C>G (p.Val192=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2919511	NM_004722.4(AP4M1):c.352-18_352-17dup	AP4M1	Duplication (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2916494	NM_004722.4(AP4M1):c.1143C>T (p.Asp381=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2903504	NM_004722.4(AP4M1):c.728-17T>C	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2890843	NM_004722.4(AP4M1):c.454G>A (p.Val152Ile)	AP4M1 (V152I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2887943	NM_004722.4(AP4M1):c.351+17C>T	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2885755	NM_004722.4(AP4M1):c.1167C>T (p.Pro389=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2873901	NM_004722.4(AP4M1):c.1188G>A (p.Ser396=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2873629	NM_004722.4(AP4M1):c.707T>C (p.Val236Ala)	AP4M1 (V243A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2873301	NM_004722.4(AP4M1):c.1203G>A (p.Gly401=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2860071	NM_004722.4(AP4M1):c.1308C>T (p.Pro436=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2802615	NM_004722.4(AP4M1):c.673+18A>G	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2791612	NM_004722.4(AP4M1):c.1287G>A (p.Arg429=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2790037	NM_004722.4(AP4M1):c.930-4C>G	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2756189	NM_004722.4(AP4M1):c.1025+20A>G	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2754453	NM_004722.4(AP4M1):c.1336A>G (p.Ser446Gly)	AP4M1 (S446G +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2749126	NM_004722.4(AP4M1):c.861dup (p.Asp288fs)	AP4M1 (D295fs +1 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 50	GPathogenic
Select item 2744001	NM_004722.4(AP4M1):c.254+14G>A	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2742210	NM_004722.4(AP4M1):c.45C>G (p.Leu15=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2725244	NM_004722.4(AP4M1):c.238C>T (p.Leu80=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2724520	NM_004722.4(AP4M1):c.462+20_462+22del	AP4M1	Microsatellite (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2719568	NM_004722.4(AP4M1):c.674-19_674-17del	AP4M1	Deletion (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2718198	NM_004722.4(AP4M1):c.606+18A>C	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2712007	NM_004722.4(AP4M1):c.255-12G>A	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2704598	NM_004722.4(AP4M1):c.381G>A (p.Thr127=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2682288	NM_004722.4(AP4M1):c.568del (p.Asp190fs)	AP4M1 (D190fs +1 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 50	GPathogenic
Select item 2674606	NM_004722.4(AP4M1):c.974+115dup	AP4M1	Duplication (intron variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2580218	NM_004722.4(AP4M1):c.975-25_975-22del	AP4M1	Deletion (intron variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2431426	NM_004722.4(AP4M1):c.1138-1G>A	AP4M1	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 50	GLikely pathogenic
Select item 2421746	NM_004722.4(AP4M1):c.1259A>T (p.Gln420Leu)	AP4M1 (Q420L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2418903	NM_004722.4(AP4M1):c.173A>G (p.His58Arg)	AP4M1 (H58R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2416808	NM_004722.4(AP4M1):c.147+12C>T	AP4M1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2416438	NM_004722.4(AP4M1):c.1084C>T (p.Arg362Cys)	AP4M1 (R362C +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2415994	NM_004722.4(AP4M1):c.45C>T (p.Leu15=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2415342	NM_004722.4(AP4M1):c.930-1G>C	AP4M1	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 50	GLikely pathogenic
Select item 2413678	NM_004722.4(AP4M1):c.1354C>T (p.Arg452Trp)	AP4M1 (R452W +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +1 more	GUncertain significance
Select item 2199830	NM_004722.4(AP4M1):c.331G>A (p.Glu111Lys)	AP4M1 (E118K +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2198454	NM_004722.4(AP4M1):c.1311C>G (p.His437Gln)	AP4M1 (H437Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2195107	NM_004722.4(AP4M1):c.169A>G (p.Ile57Val)	AP4M1 (I57V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2190768	NM_004722.4(AP4M1):c.148-18T>C	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2190350	NM_004722.4(AP4M1):c.255-10G>A	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2188461	NM_004722.4(AP4M1):c.872C>A (p.Pro291His)	AP4M1 (P291H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2178694	NM_004722.4(AP4M1):c.59-14C>T	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2178651	NM_004722.4(AP4M1):c.600A>G (p.Ala200=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2177883	NM_004722.4(AP4M1):c.1227C>T (p.Phe409=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2174048	NM_004722.4(AP4M1):c.219C>T (p.Asn73=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2171072	NM_004722.4(AP4M1):c.1085G>A (p.Arg362His)	AP4M1 (R369H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2169397	NM_004722.4(AP4M1):c.351+19del	AP4M1	Deletion (intron variant)	Hereditary spastic paraplegia 50	GBenign
Select item 2166065	NM_004722.4(AP4M1):c.255-12G>C	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2165756	NM_004722.4(AP4M1):c.331G>C (p.Glu111Gln)	AP4M1 (E111Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2163496	NM_004722.4(AP4M1):c.85G>A (p.Val29Met)	AP4M1 (V29M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2162087	NM_004722.4(AP4M1):c.1137+6C>T	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50 +1 more	GUncertain significance
Select item 2157868	NM_004722.4(AP4M1):c.471T>C (p.Ala157=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2156501	NM_004722.4(AP4M1):c.751G>A (p.Asp251Asn)	AP4M1 (D251N +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2154910	NM_004722.4(AP4M1):c.244C>G (p.Leu82Val)	AP4M1 (L89V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2154236	NM_004722.4(AP4M1):c.544-11C>T	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2151433	NM_004722.4(AP4M1):c.622G>A (p.Val208Met)	AP4M1 (V208M +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +1 more	GUncertain significance
Select item 2149636	NM_004722.4(AP4M1):c.1242C>A (p.His414Gln)	AP4M1 (H414Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2148939	NM_004722.4(AP4M1):c.975-8C>T	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2146843	NM_004722.4(AP4M1):c.839C>T (p.Thr280Ile)	AP4M1 (T280I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2144931	NM_004722.4(AP4M1):c.59-17G>A	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2143908	NM_004722.4(AP4M1):c.310C>T (p.Arg104Cys)	AP4M1 (R104C +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2143732	NM_004722.4(AP4M1):c.975-16C>T	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2143466	NM_004722.4(AP4M1):c.697G>T (p.Glu233Ter)	AP4M1 (E233* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 50	GPathogenic
Select item 2142760	NM_004722.4(AP4M1):c.1322G>A (p.Arg441Gln)	AP4M1 (R441Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2140425	NM_004722.4(AP4M1):c.9C>A (p.Ser3=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2137764	NM_004722.4(AP4M1):c.1025+18C>G	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2136859	NM_004722.4(AP4M1):c.834+8T>C	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2085095	NM_004722.4(AP4M1):c.975-13G>A	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2083815	NM_004722.4(AP4M1):c.1350C>T (p.Val450=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2079153	NM_004722.4(AP4M1):c.984C>A (p.Leu328=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2076363	NM_004722.4(AP4M1):c.750C>A (p.Val250=)	AP4M1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2073232	NM_004722.4(AP4M1):c.1355G>A (p.Arg452Gln)	AP4M1 (R459Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +1 more	GUncertain significance
Select item 2072557	NM_004722.4(AP4M1):c.113C>T (p.Thr38Met)	AP4M1 (T38M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2072545	NM_004722.4(AP4M1):c.891G>C (p.Arg297=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2071712	NM_004722.4(AP4M1):c.161G>A (p.Arg54His)	AP4M1 (R54H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2069795	NM_004722.4(AP4M1):c.864T>C (p.Asp288=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2069190	NM_004722.4(AP4M1):c.666C>T (p.Ser222=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2065509	NM_004722.4(AP4M1):c.984C>G (p.Leu328=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2065253	NM_004722.4(AP4M1):c.1237C>T (p.Arg413Trp)	AP4M1 (R420W +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2062360	NM_004722.4(AP4M1):c.12A>T (p.Gln4His)	AP4M1 (Q4H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2062246	NM_004722.4(AP4M1):c.975-9C>T	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2059943	NM_004722.4(AP4M1):c.351+19C>T	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2052980	NM_004722.4(AP4M1):c.289C>G (p.Leu97Val)	AP4M1 (L97V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2052902	NM_004722.4(AP4M1):c.1025+6T>G	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2052847	NM_004722.4(AP4M1):c.674-6C>T	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2052241	NM_004722.4(AP4M1):c.254+20G>A	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2047850	NM_004722.4(AP4M1):c.1183_1196del (p.Thr395fs)	AP4M1 (T402fs +1 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 50	GPathogenic
Select item 2042990	NM_004722.4(AP4M1):c.1338C>T (p.Ser446=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2039552	NM_004722.4(AP4M1):c.294C>T (p.Gly98=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2031455	NM_004722.4(AP4M1):c.254+15del	AP4M1	Deletion (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2030964	NM_004722.4(AP4M1):c.528C>T (p.Ser176=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2021877	NM_004722.4(AP4M1):c.1047C>T (p.Ser349=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign

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