9907[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
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 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 57293	GRCh38/hg38 7p22.2-22.1(chr7:4469558-5111872)x3	AP5Z1, FOXK1 +33 more	Copy number gain	See cases	GUncertain significance
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 360303	NM_014855.3(AP5Z1):c.-68G>T	AP5Z1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 910638	NM_014855.3(AP5Z1):c.-26C>T	AP5Z1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
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 1428396	NM_014855.3(AP5Z1):c.8C>T (p.Ser3Leu)	AP5Z1, LOC129997861 (S3L)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 842736	NM_014855.3(AP5Z1):c.22A>C (p.Ser8Arg)	AP5Z1, LOC129997861 (S8R)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 3045996	NM_014855.3(AP5Z1):c.33C>T (p.His11=)	AP5Z1, LOC129997861	Single nucleotide variant (5 prime UTR variant +2 more)	AP5Z1-related disorder	GLikely benign
Select item 1256232	NM_014855.3(AP5Z1):c.37G>C (p.Ala13Pro)	AP5Z1, LOC129997861 (A13P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2141185	NM_014855.3(AP5Z1):c.41+8_41+9del	AP5Z1, LOC129997861	Deletion (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 1945171	NM_014855.3(AP5Z1):c.41+5G>T	AP5Z1, LOC129997861	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2164278	NM_014855.3(AP5Z1):c.41+9G>A	AP5Z1, LOC129997861	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2068699	NM_014855.3(AP5Z1):c.41+15C>T	AP5Z1, LOC129997861	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 1599917	NM_014855.3(AP5Z1):c.41+16G>A	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GBenign
Select item 1988936	NM_014855.3(AP5Z1):c.41+19C>T	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	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 3341142	NM_014855.3(AP5Z1):c.41+780_971del	AP5Z1	Deletion (splice acceptor variant +2 more)	not provided	GLikely pathogenic
Select item 579773	NM_014855.3(AP5Z1):c.41+812_970del	AP5Z1	Deletion (splice acceptor variant +2 more)	Hereditary spastic paraplegia 48	GLikely pathogenic
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 855957	NM_014855.3(AP5Z1):c.42G>A (p.Arg14=)	AP5Z1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 1458218	NM_014855.3(AP5Z1):c.49C>T (p.Gln17Ter)	AP5Z1 (Q17*)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48	GPathogenic
Select item 804540	NM_014855.3(AP5Z1):c.54C>T (p.Asp18=)	AP5Z1	Single nucleotide variant (5 prime UTR variant +2 more)	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 1030379	NM_014855.3(AP5Z1):c.57G>T (p.Glu19Asp)	AP5Z1 (E19D)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 911863	NM_014855.3(AP5Z1):c.59A>T (p.Glu20Val)	AP5Z1 (E20V)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2041196	NM_014855.3(AP5Z1):c.62T>G (p.Leu21Arg)	AP5Z1 (L21R)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2151423	NM_014855.3(AP5Z1):c.67A>T (p.Lys23Ter)	AP5Z1 (K23*)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48	GPathogenic
Select item 3127598	NM_014855.3(AP5Z1):c.80G>T (p.Arg27Leu)	AP5Z1 (R27L)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1418025	NM_014855.3(AP5Z1):c.80G>A (p.Arg27Gln)	AP5Z1 (R27Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2	NM_014855.3(AP5Z1):c.80_83delinsTGCTGTAAACTGTAACTGTAAA (p.Arg27_Ile28delinsLeuLeuTer)	AP5Z1	Indel (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48	GPathogenic
Select item 3127599	NM_014855.3(AP5Z1):c.83T>A (p.Ile28Asn)	AP5Z1 (I28N)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2154652	NM_014855.3(AP5Z1):c.98A>G (p.Gln33Arg)	AP5Z1 (Q33R)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 1344207	NM_014855.3(AP5Z1):c.107A>G (p.Asp36Gly)	AP5Z1 (D36G)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344211	NM_014855.3(AP5Z1):c.117G>A (p.Pro39=)	AP5Z1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1154563	NM_014855.3(AP5Z1):c.120C>T (p.Asp40=)	AP5Z1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48	GLikely benign
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 412235	NM_014855.3(AP5Z1):c.127G>A (p.Asp43Asn)	AP5Z1 (D43N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 702067	NM_014855.3(AP5Z1):c.150C>T (p.Leu50=)	AP5Z1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2078407	NM_014855.3(AP5Z1):c.158C>T (p.Ser53Leu)	AP5Z1 (S53L)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 1033302	NM_014855.3(AP5Z1):c.158C>A (p.Ser53Ter)	AP5Z1 (S53*)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48	GPathogenic
Select item 1450688	NM_014855.3(AP5Z1):c.164C>T (p.Thr55Met)	AP5Z1 (T55M)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 1344219	NM_014855.3(AP5Z1):c.171C>T (p.Tyr57=)	AP5Z1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1443565	NM_014855.3(AP5Z1):c.172A>G (p.Ser58Gly)	AP5Z1 (S58G)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 804538	NM_014855.3(AP5Z1):c.176G>A (p.Arg59Gln)	AP5Z1 (R59Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 1030377	NM_014855.3(AP5Z1):c.179+1G>T	AP5Z1	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 48	GLikely pathogenic
Select item 2085814	NM_014855.3(AP5Z1):c.179+3G>A	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 1570163	NM_014855.3(AP5Z1):c.179+15G>A	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
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 1986699	NM_014855.3(AP5Z1):c.180-19C>T	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2173725	NM_014855.3(AP5Z1):c.180-16G>A	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 697939	NM_014855.3(AP5Z1):c.180-9G>A	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	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 2033485	NM_014855.3(AP5Z1):c.180-3C>T	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 1362956	NM_014855.3(AP5Z1):c.195C>G (p.Cys65Trp)	AP5Z1 (C65W)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 1105600	NM_014855.3(AP5Z1):c.195C>T (p.Cys65=)	AP5Z1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2097827	NM_014855.3(AP5Z1):c.196G>A (p.Val66Ile)	AP5Z1 (V66I)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1982107	NM_014855.3(AP5Z1):c.200A>T (p.Asp67Val)	AP5Z1 (D67V)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 567257	NM_014855.3(AP5Z1):c.210_231del (p.Gln70fs)	AP5Z1 (Q70fs)	Deletion (frameshift variant +2 more)	Hereditary spastic paraplegia 48	GPathogenic
Select item 1506630	NM_014855.3(AP5Z1):c.209A>T (p.Gln70Leu)	AP5Z1 (Q70L)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 699305	NM_014855.3(AP5Z1):c.210G>A (p.Gln70=)	AP5Z1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 706952	NM_014855.3(AP5Z1):c.219C>T (p.Leu73=)	AP5Z1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 810058	NM_014855.3(AP5Z1):c.220G>A (p.Gly74Ser)	AP5Z1 (G74S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 911864	NM_014855.3(AP5Z1):c.238G>A (p.Glu80Lys)	AP5Z1 (E80K)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 538866	NM_014855.3(AP5Z1):c.258C>T (p.Cys86=)	AP5Z1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 360305	NM_014855.3(AP5Z1):c.259G>A (p.Ala87Thr)	AP5Z1 (A87T)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48 +1 more	GConflicting classifications of pathogenicity
Select item 1933723	NM_014855.3(AP5Z1):c.262G>A (p.Ala88Thr)	AP5Z1 (A88T)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 1344230	NM_014855.3(AP5Z1):c.271C>T (p.Arg91Ter)	AP5Z1 (R91*)	Single nucleotide variant (nonsense +2 more)	Hereditary spastic paraplegia	GLikely pathogenic
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 1986576	NM_014855.3(AP5Z1):c.283C>T (p.Pro95Ser)	AP5Z1 (P95S)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48 +2 more	GUncertain significance
Select item 1344231	NM_014855.3(AP5Z1):c.295del (p.Leu99fs)	AP5Z1 (L99fs)	Deletion (frameshift variant +2 more)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 1344232	NM_014855.3(AP5Z1):c.299G>A (p.Ser100Asn)	AP5Z1 (S100N)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 848339	NM_014855.3(AP5Z1):c.302T>C (p.Leu101Pro)	AP5Z1 (L101P)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 360306	NM_014855.3(AP5Z1):c.313C>T (p.His105Tyr)	AP5Z1 (H105Y)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2137291	NM_014855.3(AP5Z1):c.317C>T (p.Thr106Met)	AP5Z1 (T106M)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2080613	NM_014855.3(AP5Z1):c.318G>C (p.Thr106=)	AP5Z1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 1083763	NM_014855.3(AP5Z1):c.318G>A (p.Thr106=)	AP5Z1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 48	GLikely benign

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