AP4M1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	UFSP1, VGF +299 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +229 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +309 more	Copy number loss	See cases	GPathogenic
Select item 146325	GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3	AP4M1, ARPC1A +124 more	Copy number gain	See cases	GLikely benign
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	CNPY4, COPS6 +227 more	Copy number loss	See cases	GPathogenic
Select item 154648	GRCh38/hg38 7q22.1(chr7:99880388-100288453)x3	AP4M1, AZGP1 +67 more	Copy number gain	See cases	GUncertain significance
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 1290038	NM_005916.5(MCM7):c.31+97G>C	AP4M1, MCM7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2294804	NM_005916.5(MCM7):c.27G>T (p.Glu9Asp)	AP4M1, MCM7 (E9D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3124389	NM_005916.5(MCM7):c.19G>A (p.Ala7Thr)	AP4M1, MCM7 (A7T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
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 1449817	NM_004722.4(AP4M1):c.3G>C (p.Met1Ile)	AP4M1, LOC129998897 (M1I)	Single nucleotide variant (missense variant +1 more)	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 981454	NM_004722.4(AP4M1):c.10C>T (p.Gln4Ter)	AP4M1 (Q4*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
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 1014429	NM_004722.4(AP4M1):c.12A>G (p.Gln4=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2321143	NM_004722.4(AP4M1):c.19A>C (p.Ile7Leu)	AP4M1 (I7L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 560945	NM_004722.4(AP4M1):c.26C>T (p.Ser9Phe)	AP4M1 (S9F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2299839	NM_004722.4(AP4M1):c.29C>T (p.Ser10Phe)	AP4M1 (S10F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1663476	NM_004722.4(AP4M1):c.30C>T (p.Ser10=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	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 2742210	NM_004722.4(AP4M1):c.45C>G (p.Leu15=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
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 1497146	NM_004722.4(AP4M1):c.52_58+6del	AP4M1	Deletion (splice donor variant)	Hereditary spastic paraplegia 50	GPathogenic
Select item 1180679	NM_004722.4(AP4M1):c.53_54del (p.Lys18fs)	AP4M1 (K18fs)	Deletion (frameshift variant)	Abnormality of the nervous system	GPathogenic
Select item 1444925	NM_004722.4(AP4M1):c.55G>A (p.Asp19Asn)	AP4M1 (D19N)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2634768	NM_004722.4(AP4M1):c.57C>T (p.Asp19=)	AP4M1	Single nucleotide variant (synonymous variant)	AP4M1-related condition	GUncertain significance
Select item 1493893	NM_004722.4(AP4M1):c.58+1_58+2del	AP4M1	Deletion (splice donor variant)	Hereditary spastic paraplegia 50	GLikely pathogenic
Select item 471068	NM_004722.4(AP4M1):c.58+2T>G	AP4M1	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 50	GLikely pathogenic
Select item 1335679	NM_004722.4(AP4M1):c.58+3A>G	AP4M1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 506694	NM_004722.4(AP4M1):c.58+12C>T	AP4M1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 1268357	NM_004722.4(AP4M1):c.58+41G>A	AP4M1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1989941	NM_004722.4(AP4M1):c.59-16T>C	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
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 682289	NM_004722.4(AP4M1):c.59-14C>G	AP4M1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1609925	NM_004722.4(AP4M1):c.59-11C>T	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 703481	NM_004722.4(AP4M1):c.60C>T (p.Phe20=)	AP4M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016128	NM_004722.4(AP4M1):c.63_64del (p.Asp23fs)	AP4M1 (D23fs)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 50	GPathogenic
Select item 1695199	NM_004722.4(AP4M1):c.63C>T (p.Arg21=)	AP4M1	Single nucleotide variant (synonymous variant)	not provided	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 1529507	NM_004722.4(AP4M1):c.68A>G (p.Asp23Gly)	AP4M1 (D23G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GBenign
Select item 1545083	NM_004722.4(AP4M1):c.84T>C (p.Asp28=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
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 2541377	NM_004722.4(AP4M1):c.86T>C (p.Val29Ala)	AP4M1 (V29A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1344792	NM_004722.4(AP4M1):c.90del (p.Glu31fs)	AP4M1 (E31fs)	Deletion (frameshift variant)	Spastic paraplegia	GLikely pathogenic
Select item 1615527	NM_004722.4(AP4M1):c.90C>G (p.Ala30=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 1495982	NM_004722.4(AP4M1):c.92A>T (p.Glu31Val)	AP4M1 (E31V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 1145654	NM_004722.4(AP4M1):c.93G>A (p.Glu31=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2236152	NM_004722.4(AP4M1):c.104G>T (p.Arg35Leu)	AP4M1 (R35L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 471065	NM_004722.4(AP4M1):c.129C>A (p.Asp43Glu)	AP4M1 (D43E)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +1 more	GUncertain significance
Select item 659743	NM_004722.4(AP4M1):c.136C>G (p.Pro46Ala)	AP4M1 (P46A)	Single nucleotide variant (missense variant)	not specified +1 more	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 1697248	NM_004722.4(AP4M1):c.142del (p.Val48fs)	AP4M1 (V48fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 50	GLikely pathogenic
Select item 1344095	NM_004722.4(AP4M1):c.146T>A (p.Met49Lys)	AP4M1 (M49K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 794704	NM_004722.4(AP4M1):c.147+10G>A	AP4M1 (G53S)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 50	GLikely benign
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 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 2190768	NM_004722.4(AP4M1):c.148-18T>C	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 1968870	NM_004722.4(AP4M1):c.148-11C>T	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 1914895	NM_004722.4(AP4M1):c.148-10T>C	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 1472791	NM_004722.4(AP4M1):c.155A>G (p.His52Arg)	AP4M1 (H52R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
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 412222	NM_004722.4(AP4M1):c.163C>T (p.His55Tyr)	AP4M1 (H55Y +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 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 1488757	NM_004722.4(AP4M1):c.175A>G (p.Ile59Val)	AP4M1 (I66V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 3127556	NM_004722.4(AP4M1):c.179G>C (p.Arg60Thr)	AP4M1 (R60T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127557	NM_004722.4(AP4M1):c.186C>A (p.Ser62Arg)	AP4M1 (S69R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 699948	NM_004722.4(AP4M1):c.186C>T (p.Ser62=)	AP4M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 574448	NM_004722.4(AP4M1):c.188G>C (p.Gly63Ala)	AP4M1 (G63A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 1285367	NM_004722.4(AP4M1):c.189_194delinsTCTC (p.Tyr65fs)	AP4M1 (Y65fs +1 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 210208	NM_004722.4(AP4M1):c.189C>T (p.Gly63=)	AP4M1	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
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 1344785	NM_004722.4(AP4M1):c.194_195del (p.Tyr65fs)	AP4M1 (Y65fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia	GLikely pathogenic
Select item 804402	NM_004722.4(AP4M1):c.203del (p.Val68fs)	AP4M1 (V68fs +1 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 50	GLikely pathogenic
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 2174048	NM_004722.4(AP4M1):c.219C>T (p.Asn73=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 1443476	NM_004722.4(AP4M1):c.220G>A (p.Val74Ile)	AP4M1 (V74I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1464726	NM_004722.4(AP4M1):c.226C>T (p.Pro76Ser)	AP4M1 (P83S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 1701528	NM_004722.4(AP4M1):c.228_231del (p.Phe77fs)	AP4M1 (F77fs +1 more)	Deletion (frameshift variant)	not provided	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 2725244	NM_004722.4(AP4M1):c.238C>T (p.Leu80=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 1673048	NM_004722.4(AP4M1):c.243A>G (p.Glu81=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
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 2031455	NM_004722.4(AP4M1):c.254+15del	AP4M1	Deletion (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
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 2052241	NM_004722.4(AP4M1):c.254+20G>A	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 383659	NM_004722.4(AP4M1):c.255-16C>T	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50 +1 more	GBenign

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