"GeneDx"[submitter] AND "AP5Z1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 1262704	NC_000007.14:g.4775417G>A	AP5Z1	Single nucleotide variant	not provided	GBenign
Select item 1189725	NC_000007.14:g.4775436C>A	AP5Z1	Single nucleotide variant	not provided	GLikely benign
Select item 1295673	NC_000007.14:g.4775501G>A	AP5Z1	Single nucleotide variant	not provided	GBenign
Select item 1226774	NC_000007.14:g.4775504C>A	AP5Z1	Single nucleotide variant	not provided	GBenign
Select item 1280574	NC_000007.14:g.4775532T>G	AP5Z1	Single nucleotide variant	not provided	GBenign
Select item 360304	NM_014855.3(AP5Z1):c.-3G>A	AP5Z1, LOC129997861	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GBenign/Likely benign
Select item 585436	NM_014855.3(AP5Z1):c.-1G>C	AP5Z1, LOC129997861	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GLikely benign
Select item 1244760	NM_014855.3(AP5Z1):c.41+141T>G	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276003	NM_014855.3(AP5Z1):c.41+216T>C	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214029	NM_014855.3(AP5Z1):c.41+232T>G	AP5Z1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252686	NM_014855.3(AP5Z1):c.41+285C>G	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293085	NM_014855.3(AP5Z1):c.42-225T>C	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178374	NM_014855.3(AP5Z1):c.42-146C>T	AP5Z1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202338	NM_014855.3(AP5Z1):c.42-144A>T	AP5Z1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207118	NM_014855.3(AP5Z1):c.42-77C>T	AP5Z1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 546254	NM_014855.3(AP5Z1):c.55G>A (p.Glu19Lys)	AP5Z1 (E19K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 446846	NM_014855.3(AP5Z1):c.126C>T (p.Leu42=)	AP5Z1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48 +2 more	GConflicting classifications of pathogenicity
Select item 1189602	NM_014855.3(AP5Z1):c.179+113T>G	AP5Z1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191766	NM_014855.3(AP5Z1):c.180-28C>T	AP5Z1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2581922	NM_014855.3(AP5Z1):c.180-3C>G	AP5Z1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 424695	NM_014855.3(AP5Z1):c.272G>A (p.Arg91Gln)	AP5Z1 (R91Q)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 128413	NM_014855.3(AP5Z1):c.281C>G (p.Ser94Cys)	AP5Z1 (S94C)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 360306	NM_014855.3(AP5Z1):c.313C>T (p.His105Tyr)	AP5Z1 (H105Y)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 128414	NM_014855.3(AP5Z1):c.333G>C (p.Gln111His)	AP5Z1 (Q111H)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48 +3 more	GBenign/Likely benign
Select item 446850	NM_014855.3(AP5Z1):c.355_358dup (p.Leu120fs)	AP5Z1 (L120fs)	Microsatellite (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1293087	NM_014855.3(AP5Z1):c.366+170G>A	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235736	NM_014855.3(AP5Z1):c.366+242C>G	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263053	NM_014855.3(AP5Z1):c.367-310C>G	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243252	NM_014855.3(AP5Z1):c.367-305C>T	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226202	NM_014855.3(AP5Z1):c.367-169G>C	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255139	NM_014855.3(AP5Z1):c.367-60T>C	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 585438	NM_014855.3(AP5Z1):c.369T>C (p.Gly123=)	AP5Z1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 360308	NM_014855.3(AP5Z1):c.379G>A (p.Glu127Lys)	AP5Z1 (E127K)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48 +3 more	GBenign/Likely benign
Select item 2581920	NM_014855.3(AP5Z1):c.383A>C (p.Glu128Ala)	AP5Z1 (E128A)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 695649	NM_014855.3(AP5Z1):c.428G>A (p.Arg143Gln)	AP5Z1 (R143Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48 +2 more	GBenign/Likely benign
Select item 240943	NM_014855.3(AP5Z1):c.481G>A (p.Val161Met)	AP5Z1 (V161M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1207120	NM_014855.3(AP5Z1):c.511+66A>G	AP5Z1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222863	NM_014855.3(AP5Z1):c.511+87G>T	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268129	NM_014855.3(AP5Z1):c.511+95G>T	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186981	NM_014855.3(AP5Z1):c.511+104G>A	AP5Z1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196925	NM_014855.3(AP5Z1):c.512-111G>T	AP5Z1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 360312	NM_014855.3(AP5Z1):c.512-7A>G	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48 +1 more	GBenign
Select item 1312391	NM_014855.3(AP5Z1):c.556T>C (p.Tyr186His)	AP5Z1 (Y186H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 695581	NM_014855.3(AP5Z1):c.558C>T (p.Tyr186=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 2581919	NM_014855.3(AP5Z1):c.607C>T (p.Pro203Ser)	AP5Z1 (P203S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1312283	NM_014855.3(AP5Z1):c.616C>G (p.Arg206Gly)	AP5Z1 (R206G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1257974	NM_014855.3(AP5Z1):c.621+168G>A	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280364	NM_014855.3(AP5Z1):c.622-111G>A	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 538860	NM_014855.3(AP5Z1):c.671C>T (p.Thr224Met)	AP5Z1 (T224M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 538859	NM_014855.3(AP5Z1):c.691C>T (p.Arg231Cys)	AP5Z1 (R231C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3363895	NM_014855.3(AP5Z1):c.697A>G (p.Thr233Ala)	AP5Z1 (T233A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 128415	NM_014855.3(AP5Z1):c.759C>T (p.Ser253=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GBenign
Select item 2509819	NM_014855.3(AP5Z1):c.773C>T (p.Pro258Leu)	AP5Z1 (P258L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1265504	NM_014855.3(AP5Z1):c.790+129A>G	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233759	NM_014855.3(AP5Z1):c.791-228C>T	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196894	NM_014855.3(AP5Z1):c.791-222G>A	AP5Z1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210645	NM_014855.3(AP5Z1):c.791-124C>T	AP5Z1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282741	NM_014855.3(AP5Z1):c.791-110C>T	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 446852	NM_014855.3(AP5Z1):c.791-5C>T	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +2 more	GBenign/Likely benign
Select item 3363896	NM_014855.3(AP5Z1):c.878T>A (p.Leu293His)	AP5Z1 (L137H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 360320	NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln)	AP5Z1 (R294Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 446853	NM_014855.3(AP5Z1):c.900C>T (p.Tyr300=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GBenign/Likely benign
Select item 974861	NM_014855.3(AP5Z1):c.931C>T (p.Arg311Ter)	AP5Z1 (R155* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 48 +1 more	GPathogenic/Likely pathogenic
Select item 1182055	NM_014855.3(AP5Z1):c.932-159A>G	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183048	NM_014855.3(AP5Z1):c.932-43T>C	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189272	NM_014855.3(AP5Z1):c.969+34C>T	AP5Z1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 360322	NM_014855.3(AP5Z1):c.970-13C>T	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48 +1 more	GBenign
Select item 1201942	NM_014855.3(AP5Z1):c.970-12C>G	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48 +1 more	GConflicting classifications of pathogenicity
Select item 1800761	NM_014855.3(AP5Z1):c.1037G>C (p.Ser346Thr)	AP5Z1 (S190T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 1315536	NM_014855.3(AP5Z1):c.1057C>G (p.Leu353Val)	AP5Z1 (L197V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 128408	NM_014855.3(AP5Z1):c.1124T>A (p.Leu375Gln)	AP5Z1 (L375Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GBenign
Select item 128409	NM_014855.3(AP5Z1):c.1131C>T (p.His377=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GBenign
Select item 445531	NM_014855.3(AP5Z1):c.1132+14G>T	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48 +1 more	GBenign/Likely benign
Select item 1294526	NM_014855.3(AP5Z1):c.1132+95_1132+96dup	AP5Z1	Duplication (intron variant)	not provided	GBenign
Select item 1259907	NM_014855.3(AP5Z1):c.1132+96dup	AP5Z1	Duplication (intron variant)	not provided	GBenign
Select item 1344914	NM_014855.3(AP5Z1):c.1132+94_1132+96del	AP5Z1	Deletion (intron variant)	not provided	GBenign
Select item 1254595	NM_014855.3(AP5Z1):c.1132+93_1132+96del	AP5Z1	Deletion (intron variant)	not provided	GLikely benign
Select item 1185819	NM_014855.3(AP5Z1):c.1132+96del	AP5Z1	Deletion (intron variant)	not provided	GLikely benign
Select item 1277607	NM_014855.3(AP5Z1):c.1132+259G>A	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266396	NM_014855.3(AP5Z1):c.1133-255C>T	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213669	NM_014855.3(AP5Z1):c.1133-239C>T	AP5Z1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274992	NM_014855.3(AP5Z1):c.1133-195G>T	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292864	NM_014855.3(AP5Z1):c.1133-30C>T	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254581	NM_014855.3(AP5Z1):c.1133-19G>C	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48 +1 more	GBenign/Likely benign
Select item 128410	NM_014855.3(AP5Z1):c.1197G>A (p.Glu399=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48 +3 more	GBenign/Likely benign
Select item 1194158	NM_014855.3(AP5Z1):c.1311+129T>C	AP5Z1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295660	NM_014855.3(AP5Z1):c.1311+132G>A	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209002	NM_014855.3(AP5Z1):c.1311+239A>G	AP5Z1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209041	NM_014855.3(AP5Z1):c.1311+244G>C	AP5Z1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283025	NM_014855.3(AP5Z1):c.1311+280T>C	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221648	NM_014855.3(AP5Z1):c.1312-319A>C	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261553	NM_014855.3(AP5Z1):c.1312-298A>C	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248770	NM_014855.3(AP5Z1):c.1312-205T>G	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291736	NM_014855.3(AP5Z1):c.1312-169G>A	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250247	NM_014855.3(AP5Z1):c.1312-105G>C	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207462	NM_014855.3(AP5Z1):c.1312-20C>T	AP5Z1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 48 +1 more	GBenign/Likely benign
Select item 360325	NM_014855.3(AP5Z1):c.1315C>T (p.Leu439=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1310641	NM_014855.3(AP5Z1):c.1319C>T (p.Ala440Val)	AP5Z1 (A284V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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