MAG[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	LOC130064186, LOC130064187 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	LOC130064234, LOC130064235 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	FXYD7, GARRE1 +193 more	Copy number loss	See cases	GPathogenic
Select item 704256	NM_002361.4(MAG):c.14C>T (p.Thr5Met)	MAG (T5M)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 75	GLikely benign
Select item 2156805	NM_002361.4(MAG):c.15G>C (p.Thr5=)	MAG	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 75	GLikely benign
Select item 2106374	NM_002361.4(MAG):c.15G>A (p.Thr5=)	MAG	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 75 +1 more	GLikely benign
Select item 542304	NM_002361.4(MAG):c.18A>G (p.Ala6=)	MAG	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 75 +1 more	GLikely benign
Select item 808512	NM_002361.4(MAG):c.34A>G (p.Ile12Val)	MAG (I12V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2047261	NM_002361.4(MAG):c.40A>G (p.Ile14Val)	MAG (I14V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 663905	NM_002361.4(MAG):c.46+5C>A	MAG	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1916941	NM_002361.4(MAG):c.46+6G>A	MAG	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2078845	NM_002361.4(MAG):c.46+20G>A	MAG	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 75	GLikely benign
Select item 2043708	NM_002361.4(MAG):c.47-19C>T	MAG	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 1565901	NM_002361.4(MAG):c.47-17C>T	MAG	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 75	GBenign
Select item 2145752	NM_002361.4(MAG):c.47-16T>A	MAG	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 1999463	NM_002361.4(MAG):c.47-15C>T	MAG	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 1536379	NM_002361.4(MAG):c.47-13T>C	MAG	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 1669676	NM_002361.4(MAG):c.47-10T>G	MAG	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 252776	NM_002361.4(MAG):c.47-4G>T	MAG	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 75 +2 more	GBenign/Likely benign
Select item 1674619	NM_002361.4(MAG):c.52C>A (p.Arg18=)	MAG	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 75	GLikely benign
Select item 452162	NM_002361.4(MAG):c.61C>T (p.His21Tyr)	MAG (H21Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2145999	NM_002361.4(MAG):c.105C>T (p.Gly35=)	MAG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 730755	NM_002361.4(MAG):c.111C>T (p.Cys37=)	MAG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 1362969	NM_002361.4(MAG):c.116C>T (p.Ser39Phe)	MAG (S39F +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1090610	NM_002361.4(MAG):c.120C>A (p.Ile40=)	MAG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 1471927	NM_002361.4(MAG):c.127C>T (p.Arg43Cys)	MAG (R18C +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2061059	NM_002361.4(MAG):c.128G>A (p.Arg43His)	MAG (R18H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1988086	NM_002361.4(MAG):c.152G>A (p.Arg51Gln)	MAG (R26Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2712155	NM_002361.4(MAG):c.153G>A (p.Arg51=)	MAG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 1357205	NM_002361.4(MAG):c.157G>A (p.Ala53Thr)	MAG (A28T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2053521	NM_002361.4(MAG):c.185A>G (p.Asn62Ser)	MAG (N37S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2553605	NM_002361.4(MAG):c.212C>T (p.Pro71Leu)	MAG (P46L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2867269	NM_002361.4(MAG):c.213G>A (p.Pro71=)	MAG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 706192	NM_002361.4(MAG):c.216G>C (p.Val72=)	MAG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 75 +1 more	GLikely benign
Select item 2046675	NM_002361.4(MAG):c.228G>C (p.Ser76=)	MAG	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1921307	NM_002361.4(MAG):c.228G>T (p.Ser76=)	MAG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 475607	NM_002361.4(MAG):c.228G>A (p.Ser76=)	MAG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 75 +1 more	GBenign/Likely benign
Select item 2528911	NM_002361.4(MAG):c.229C>A (p.Arg77Ser)	MAG (R52S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2055278	NM_002361.4(MAG):c.230G>T (p.Arg77Leu)	MAG (R77L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 704757	NM_002361.4(MAG):c.230G>A (p.Arg77His)	MAG (R77H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 1651601	NM_002361.4(MAG):c.243C>G (p.Val81=)	MAG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 976540	NM_002361.4(MAG):c.246C>T (p.His82=)	MAG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 75	GBenign
Select item 1432660	NM_002361.4(MAG):c.252C>A (p.Ser84Arg)	MAG (S84R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2199940	NM_002361.4(MAG):c.268C>T (p.Arg90Cys)	MAG (R65C +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2059579	NM_002361.4(MAG):c.269G>A (p.Arg90His)	MAG (R65H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2463001	NM_002361.4(MAG):c.308T>A (p.Leu103Gln)	MAG (L78Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463002	NM_002361.4(MAG):c.313A>C (p.Ser105Arg)	MAG (S80R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2074014	NM_002361.4(MAG):c.318C>A (p.Asn106Lys)	MAG (N106K +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2037764	NM_002361.4(MAG):c.318C>T (p.Asn106=)	MAG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 579541	NM_002361.4(MAG):c.319G>A (p.Val107Ile)	MAG (V107I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1425709	NM_002361.4(MAG):c.325C>A (p.Pro109Thr)	MAG (P109T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 657878	NM_002361.4(MAG):c.328G>T (p.Glu110Ter)	MAG (E110* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2096634	NM_002361.4(MAG):c.329A>C (p.Glu110Ala)	MAG (E85A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2543927	NM_002361.4(MAG):c.360C>A (p.Asp120Glu)	MAG (D95E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2057947	NM_002361.4(MAG):c.367G>A (p.Gly123Ser)	MAG (G98S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1168325	NM_002361.4(MAG):c.399C>T (p.Ser133=)	MAG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 75	GBenign
Select item 218187	NM_002361.4(MAG):c.399C>G (p.Ser133Arg)	MAG (S133R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GPathogenic
Select item 1962749	NM_002361.4(MAG):c.400G>A (p.Val134Ile)	MAG (V109I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 542302	NM_002361.4(MAG):c.409A>G (p.Ile137Val)	MAG (I137V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GBenign
Select item 1439086	NM_002361.4(MAG):c.415+4A>C	MAG	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1652147	NM_002361.4(MAG):c.415+14G>A	MAG	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 1985546	NM_002361.4(MAG):c.416-12C>G	MAG	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 435794	NM_002361.4(MAG):c.416-6_418dup	MAG	Duplication (splice acceptor variant)	not provided	GLikely pathogenic
Select item 750738	NM_002361.4(MAG):c.416-6G>A	MAG	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 2137108	NM_002361.4(MAG):c.430G>T (p.Val144Leu)	MAG (V144L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 969102	NM_002361.4(MAG):c.439C>G (p.Pro147Ala)	MAG (P147A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 424686	NM_002361.4(MAG):c.452C>T (p.Ala151Val)	MAG (A151V +1 more)	Single nucleotide variant (missense variant)	MAG-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1168416	NM_002361.4(MAG):c.462G>A (p.Glu154=)	MAG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1900606	NM_002361.4(MAG):c.468G>C (p.Glu156Asp)	MAG (E156D +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2585566	NM_002361.4(MAG):c.470del (p.Val157fs)	MAG (V157fs +1 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 75	GLikely pathogenic
Select item 704914	NM_002361.4(MAG):c.471C>T (p.Val157=)	MAG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 568848	NM_002361.4(MAG):c.481G>C (p.Val161Leu)	MAG (V161L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2414820	NM_002361.4(MAG):c.486G>A (p.Pro162=)	MAG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 488543	NM_002361.4(MAG):c.517_521dup (p.Trp174Ter)	MAG (W149* +1 more)	Microsatellite (nonsense)	Hereditary spastic paraplegia 75	GPathogenic
Select item 2098622	NM_002361.4(MAG):c.513G>T (p.Glu171Asp)	MAG (E146D +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1625295	NM_002361.4(MAG):c.537G>A (p.Gly179=)	MAG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 1029591	NM_002361.4(MAG):c.541G>T (p.Gly181Trp)	MAG (G181W +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1341703	NM_002361.4(MAG):c.562C>T (p.Arg188Trp)	MAG (R163W +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1351102	NM_002361.4(MAG):c.569G>A (p.Arg190Gln)	MAG (R165Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2103199	NM_002361.4(MAG):c.580G>A (p.Gly194Ser)	MAG (G169S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1694909	NM_002361.4(MAG):c.589G>A (p.Val197Met)	MAG (V172M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309654	NM_002361.4(MAG):c.600A>T (p.Ser200=)	MAG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 75 +1 more	GConflicting classifications of pathogenicity
Select item 1966175	NM_002361.4(MAG):c.601C>G (p.Leu201Val)	MAG (L201V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1296047	NM_002361.4(MAG):c.603G>A (p.Leu201=)	MAG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 475608	NM_002361.4(MAG):c.603_604delinsAA (p.Leu202Met)	MAG (L202M +1 more)	Indel (missense variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 1239579	NM_002361.4(MAG):c.604C>A (p.Leu202Met)	MAG (L177M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2038038	NM_002361.4(MAG):c.608A>G (p.His203Arg)	MAG (H203R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2197109	NM_002361.4(MAG):c.612C>T (p.Phe204=)	MAG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 2081886	NM_002361.4(MAG):c.619A>G (p.Thr207Ala)	MAG (T182A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75 +1 more	GUncertain significance
Select item 2074810	NM_002361.4(MAG):c.621G>A (p.Thr207=)	MAG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 735643	NM_002361.4(MAG):c.633C>T (p.Asn211=)	MAG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 1531171	NM_002361.4(MAG):c.642G>A (p.Arg214=)	MAG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 575785	NM_002361.4(MAG):c.646G>T (p.Gly216Cys)	MAG (G216C +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75 +1 more	GUncertain significance
Select item 2717518	NM_002361.4(MAG):c.657C>G (p.Ala219=)	MAG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 793748	NM_002361.4(MAG):c.657C>T (p.Ala219=)	MAG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 475609	NM_002361.4(MAG):c.668A>G (p.Asn223Ser)	MAG (N223S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2913069	NM_002361.4(MAG):c.672C>T (p.Thr224=)	MAG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 1565777	NM_002361.4(MAG):c.681G>A (p.Gln227=)	MAG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 75	GLikely benign
Select item 1373382	NM_002361.4(MAG):c.685G>C (p.Glu229Gln)	MAG (E204Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75	GUncertain significance

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