"GeneDx"[submitter] AND "AP4M1"[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 1290038	NC_000007.14:g.100101167C>G	AP4M1, MCM7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680067	NM_004722.3(AP4M1):c.-169A>T	AP4M1	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 384128	NM_004722.4(AP4M1):c.-10C>T	AP4M1, LOC129998897	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 210211	NM_004722.4(AP4M1):c.32del (p.Lys11fs)	AP4M1 (K11fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 50 +1 more	GPathogenic/Likely pathogenic
Select item 506694	NM_004722.4(AP4M1):c.58+12C>T	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50 +2 more	GBenign
Select item 1268357	NM_004722.4(AP4M1):c.58+41G>A	AP4M1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682289	NM_004722.4(AP4M1):c.59-14C>G	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50 +1 more	GLikely benign
Select item 1305351	NM_004722.4(AP4M1):c.64G>C (p.Gly22Arg)	AP4M1 (G22R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 947354	NM_004722.4(AP4M1):c.137C>T (p.Pro46Leu)	AP4M1 (P46L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1192439	NM_004722.4(AP4M1):c.147+35T>C	AP4M1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1214203	NM_004722.4(AP4M1):c.147+242G>A	AP4M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227053	NM_004722.4(AP4M1):c.147+272dup	AP4M1	Duplication (intron variant)	not provided	GBenign
Select item 1180855	NM_004722.4(AP4M1):c.147+272del	AP4M1	Deletion (intron variant)	not provided	GBenign
Select item 1271427	NM_004722.4(AP4M1):c.148-245_148-244insC	AP4M1	Insertion (intron variant)	not provided	GBenign
Select item 1179909	NM_004722.4(AP4M1):c.148-24C>G	AP4M1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1306889	NM_004722.4(AP4M1):c.205A>C (p.Thr69Pro)	AP4M1 (T69P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450739	NM_004722.4(AP4M1):c.218dup (p.Asn73fs)	AP4M1 (N73fs +1 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 50 +1 more	GPathogenic
Select item 210209	NM_004722.4(AP4M1):c.228C>T (p.Pro76=)	AP4M1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 383659	NM_004722.4(AP4M1):c.255-16C>T	AP4M1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 386755	NM_004722.4(AP4M1):c.295G>A (p.Glu99Lys)	AP4M1 (E99K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 280192	NM_004722.4(AP4M1):c.330C>G (p.Tyr110Ter)	AP4M1 (Y110* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 210212	NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp)	AP4M1 (E111D +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1304909	NM_004722.4(AP4M1):c.351+122dup	AP4M1	Duplication (intron variant)	not provided	GBenign
Select item 1256851	NM_004722.4(AP4M1):c.351+122del	AP4M1	Deletion (intron variant)	not provided	GBenign
Select item 1258970	NM_004722.4(AP4M1):c.352-168A>G	AP4M1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678005	NM_004722.4(AP4M1):c.462+34G>A	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50 +2 more	GBenign
Select item 388602	NM_004722.4(AP4M1):c.496C>T (p.Pro166Ser)	AP4M1 (P166S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 695411	NM_004722.4(AP4M1):c.525G>A (p.Leu175=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50 +1 more	GBenign/Likely benign
Select item 1335821	NM_004722.4(AP4M1):c.543+194_543+195insAA	AP4M1	Insertion (intron variant)	not provided	GBenign
Select item 1327261	NM_004722.4(AP4M1):c.543+194_543+195insA	AP4M1	Insertion (intron variant)	not provided	GBenign
Select item 1271595	NM_004722.4(AP4M1):c.544-186dup	AP4M1	Duplication (intron variant)	not provided	GBenign
Select item 1265857	NM_004722.4(AP4M1):c.544-187_544-186dup	AP4M1	Duplication (intron variant)	not provided	GBenign
Select item 1192440	NM_004722.4(AP4M1):c.544-75T>C	AP4M1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 420267	NM_004722.4(AP4M1):c.544-8_544-3del	AP4M1	Deletion (intron variant)	not provided	GUncertain significance
Select item 434241	NM_004722.4(AP4M1):c.544-6T>G	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50 +3 more	GConflicting classifications of pathogenicity
Select item 1188292	NM_004722.4(AP4M1):c.606+200C>T	AP4M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215290	NM_004722.4(AP4M1):c.607-286T>C	AP4M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207753	NM_004722.4(AP4M1):c.607-94G>A	AP4M1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 818030	NM_004722.4(AP4M1):c.694dup (p.Glu232fs)	AP4M1 (E232fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 512579	NM_004722.4(AP4M1):c.728-21TC[5]	AP4M1	Microsatellite (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 389721	NM_004722.4(AP4M1):c.740G>C (p.Gly247Ala)	AP4M1 (G247A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +1 more	GBenign/Likely benign
Select item 128405	NM_004722.4(AP4M1):c.812G>A (p.Arg271His)	AP4M1 (R271H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 450738	NM_004722.4(AP4M1):c.842_843del (p.Val281fs)	AP4M1 (V281fs +1 more)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 50 +1 more	GPathogenic
Select item 538434	NM_004722.4(AP4M1):c.847C>T (p.Arg283Trp)	AP4M1 (R283W +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +2 more	GUncertain significance
Select item 385568	NM_004722.4(AP4M1):c.878C>T (p.Pro293Leu)	AP4M1 (P293L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 561150	NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter)	AP4M1 (R306* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 429735	NM_004722.4(AP4M1):c.923C>G (p.Ser308Ter)	AP4M1 (S308* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 50 +1 more	GPathogenic
Select item 575767	NM_004722.4(AP4M1):c.929+5G>A	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1293613	NM_004722.4(AP4M1):c.930-162del	AP4M1	Deletion (intron variant)	not provided	GBenign
Select item 1229460	NM_004722.4(AP4M1):c.930-163_930-162del	AP4M1	Deletion (intron variant)	not provided	GBenign
Select item 678154	NM_004722.4(AP4M1):c.930-77A>G	AP4M1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 450388	NM_004722.4(AP4M1):c.953G>A (p.Arg318Gln)	AP4M1 (R318Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +2 more	GConflicting classifications of pathogenicity
Select item 383930	NM_004722.4(AP4M1):c.956G>A (p.Cys319Tyr)	AP4M1 (C319Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1298207	NM_004722.4(AP4M1):c.974+43G>C	AP4M1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669080	NM_004722.4(AP4M1):c.975-14C>T	AP4M1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 128403	NM_004722.4(AP4M1):c.1002C>T (p.Leu334=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GBenign/Likely benign
Select item 209980	NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter)	AP4M1 (R338* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 50 +1 more	GPathogenic
Select item 1312874	NM_004722.4(AP4M1):c.1013G>A (p.Arg338Gln)	AP4M1 (R338Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 680070	NM_004722.4(AP4M1):c.1025+44T>C	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50 +1 more	GBenign
Select item 570275	NM_004722.4(AP4M1):c.1079C>A (p.Ala360Asp)	AP4M1 (A360D +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +1 more	GUncertain significance
Select item 1300905	NM_004722.4(AP4M1):c.1087T>C (p.Trp363Arg)	AP4M1 (W363R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704896	NM_004722.4(AP4M1):c.1099C>T (p.Arg367Trp)	AP4M1 (R367W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 386884	NM_004722.4(AP4M1):c.1100G>A (p.Arg367Gln)	AP4M1 (R367Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +2 more	GUncertain significance
Select item 973233	NM_004722.4(AP4M1):c.1117C>T (p.Gln373Ter)	AP4M1 (Q373* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 872276	NM_004722.4(AP4M1):c.1129del (p.Leu377fs)	AP4M1 (L384fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 1174617	NM_004722.4(AP4M1):c.1137+1G>T	AP4M1	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 50 +2 more	GPathogenic/Likely pathogenic
Select item 3365877	NM_004722.4(AP4M1):c.1152_1160dup (p.Pro389_Ser390insGlyProPro)	AP4M1	Duplication	not provided	GUncertain significance
Select item 975181	NM_004722.4(AP4M1):c.1148C>G (p.Pro383Arg)	AP4M1 (P383R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 391838	NM_004722.4(AP4M1):c.1238G>A (p.Arg413Gln)	AP4M1 (R413Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1344081	NM_004722.4(AP4M1):c.1265G>A (p.Arg422Gln)	AP4M1 (R422Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +2 more	GUncertain significance
Select item 128404	NM_004722.4(AP4M1):c.1305C>T (p.Asn435=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GBenign
Select item 1695830	NM_004722.4(AP4M1):c.1318G>C (p.Val440Leu)	AP4M1 (V440L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +2 more	GUncertain significance
Select item 279679	NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter)	AP4M1 (R441* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 50 +1 more	GConflicting classifications of pathogenicity
Select item 210207	NM_004722.4(AP4M1):c.1342G>A (p.Ala448Thr)	AP4M1 (A448T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 695412	NM_004722.4(AP4M1):c.1344C>T (p.Ala448=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50 +1 more	GBenign/Likely benign
Select item 1309955	NM_004722.4(AP4M1):c.1360T>C (p.Ter454Arg)	AP4M1	Single nucleotide variant (stop lost)	Hereditary spastic paraplegia 50 +1 more	GUncertain significance
Select item 1186443	NM_004722.4(AP4M1):c.*219G>T	AP4M1, TAF6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1248740	NM_004722.4(AP4M1):c.*291A>T	AP4M1, TAF6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1260154	NM_004722.4(AP4M1):c.*322A>G	AP4M1, TAF6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1702770	NM_004722.4(AP4M1):c.*449G>A	TAF6, AP4M1 (A640V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1697168	NM_139315.3(TAF6):c.1356C>A (p.Phe452Leu)	AP4M1, TAF6 (F442L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1252947	NM_139315.3(TAF6):c.1285-140T>C	AP4M1, TAF6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3360955	NM_004722.4(AP4M1):c.385A>G (p.Met129Val)	AP4M1 (M129V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 85