PRADX[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	LOC130005123, LOC130005124 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC106799843, LOC106865369 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	LOC106783508, LOC106799843 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	ANO9, AP2A2 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	AP2A2, BTBD10 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 58855	GRCh38/hg38 11p15.5(chr11:758848-1998025)x1	AP2A2, BRSK2 +115 more	Copy number loss	See cases	GPathogenic
Select item 154397	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1	KRTAP5-6, KRTAP5-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	ASCL2, C11orf21 +115 more	Copy number gain	See cases	GPathogenic
Select item 1295669	NM_001909.5(CTSD):c.228+133C>G	CTSD, PRADX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2014802	NM_001909.5(CTSD):c.228+19C>A	CTSD, PRADX	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 137049	NM_001909.5(CTSD):c.228+18G>T	CTSD, PRADX	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2125030	NM_001909.5(CTSD):c.228+17A>G	CTSD, PRADX	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1601861	NM_001909.5(CTSD):c.228+14C>A	CTSD, PRADX	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2745744	NM_001909.5(CTSD):c.228+8T>C	CTSD, PRADX	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1993604	NM_001909.5(CTSD):c.228+7A>T	CTSD, PRADX	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1511671	NM_001909.5(CTSD):c.228+1G>T	CTSD, PRADX	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 1489005	NM_001909.5(CTSD):c.228+1G>A	CTSD, PRADX	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 137048	NM_001909.5(CTSD):c.228C>T (p.Asp76=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 658357	NM_001909.5(CTSD):c.223A>G (p.Met75Val)	CTSD, PRADX (M75V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 205336	NM_001909.5(CTSD):c.216G>A (p.Lys72=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +2 more	GBenign/Likely benign
Select item 962818	NM_001909.5(CTSD):c.215A>G (p.Lys72Arg)	CTSD, PRADX (K72R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2128428	NM_001909.5(CTSD):c.211C>T (p.Leu71Phe)	CTSD, PRADX (L71F)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2855302	NM_001909.5(CTSD):c.207G>A (p.Glu69=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1961919	NM_001909.5(CTSD):c.204C>G (p.Pro68=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1142613	NM_001909.5(CTSD):c.204C>T (p.Pro68=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 835152	NM_001909.5(CTSD):c.203C>T (p.Pro68Leu)	CTSD, PRADX (P68L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 457958	NM_001909.5(CTSD):c.199A>C (p.Ile67Leu)	CTSD, PRADX (I67L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1148697	NM_001909.5(CTSD):c.195G>T (p.Gly65=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2717332	NM_001909.5(CTSD):c.192G>A (p.Glu64=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2701881	NM_001909.5(CTSD):c.190G>T (p.Glu64Ter)	CTSD, PRADX (E64*)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 842834	NM_001909.5(CTSD):c.190G>C (p.Glu64Gln)	CTSD, PRADX (E64Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 575391	NM_001909.5(CTSD):c.190G>A (p.Glu64Lys)	CTSD, PRADX (E64K)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1528474	NM_001909.5(CTSD):c.189C>G (p.Thr63=)	PRADX, CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 128874	NM_001909.5(CTSD):c.189C>T (p.Thr63=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 861285	NM_001909.5(CTSD):c.184G>T (p.Val62Leu)	CTSD, PRADX (V62L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 409620	NM_001909.5(CTSD):c.184G>A (p.Val62Met)	CTSD, PRADX (V62M)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1141189	NM_001909.5(CTSD):c.183C>T (p.Ala61=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1382321	NM_001909.5(CTSD):c.182C>T (p.Ala61Val)	CTSD, PRADX (A61V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 415716	NM_001909.5(CTSD):c.180A>G (p.Pro60=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +2 more	GLikely benign
Select item 2816316	NM_001909.5(CTSD):c.177G>A (p.Val59=)	CTSD, PRADX	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 671128	NM_001909.5(CTSD):c.174G>A (p.Ala58=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2131237	NM_001909.5(CTSD):c.173C>A (p.Ala58Glu)	CTSD, PRADX (A58E)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 128873	NM_001909.5(CTSD):c.173C>T (p.Ala58Val)	CTSD, PRADX (A58V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 2000275	NM_001909.5(CTSD):c.169C>T (p.Gln57Ter)	CTSD, PRADX (Q57*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2840415	NM_001909.5(CTSD):c.168C>G (p.Ser56=)	CTSD, PRADX	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2090484	NM_001909.5(CTSD):c.166T>C (p.Ser56Pro)	CTSD, PRADX (S56P)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2852516	NM_001909.5(CTSD):c.165C>T (p.Tyr55=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3006011	NM_001909.5(CTSD):c.162G>A (p.Lys54=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1423340	NM_001909.5(CTSD):c.161A>G (p.Lys54Arg)	CTSD, PRADX (K54R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 205335	NM_001909.5(CTSD):c.154G>A (p.Val52Ile)	CTSD, PRADX (V52I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2419916	NM_001909.5(CTSD):c.153del (p.Val52fs)	CTSD, PRADX (V52fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 137047	NM_001909.5(CTSD):c.153C>T (p.Pro51=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1439058	NM_001909.5(CTSD):c.152C>G (p.Pro51Arg)	CTSD, PRADX (P51R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1547759	NM_001909.5(CTSD):c.150C>T (p.Gly50=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 664342	NM_001909.5(CTSD):c.142G>A (p.Ala48Thr)	CTSD, PRADX (A48T)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 1998438	NM_001909.5(CTSD):c.141T>C (p.Ile47=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 641902	NM_001909.5(CTSD):c.141T>G (p.Ile47Met)	CTSD, PRADX (I47M)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 452273	NM_001909.5(CTSD):c.135C>G (p.Asp45Glu)	CTSD, PRADX (D45E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1442318	NM_001909.5(CTSD):c.133G>A (p.Asp45Asn)	CTSD, PRADX (D45N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2194432	NM_001909.5(CTSD):c.132G>C (p.Glu44Asp)	PRADX, CTSD (E44D)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 449271	NM_001909.5(CTSD):c.131A>T (p.Glu44Val)	CTSD, PRADX (E44V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715829	NM_001909.5(CTSD):c.130G>A (p.Glu44Lys)	CTSD, PRADX (E44K)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1041020	NM_001909.5(CTSD):c.127G>C (p.Val43Leu)	CTSD, PRADX (V43L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1710759	NM_001909.5(CTSD):c.122G>T (p.Gly41Val)	CTSD, PRADX (G41V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019320	NM_001909.5(CTSD):c.120G>A (p.Gly40=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2995516	NM_001909.5(CTSD):c.117T>C (p.Val39=)	CTSD, PRADX	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2009997	NM_001909.5(CTSD):c.115G>C (p.Val39Leu)	CTSD, PRADX (V39L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1968667	NM_001909.5(CTSD):c.115G>A (p.Val39Ile)	CTSD, PRADX (V39I)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2860536	NM_001909.5(CTSD):c.114G>A (p.Glu38=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 527748	NM_001909.5(CTSD):c.111G>A (p.Ser37=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 303840	NM_001909.5(CTSD):c.111G>C (p.Ser37=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GConflicting classifications of pathogenicity
Select item 1794749	NM_001909.5(CTSD):c.110C>T (p.Ser37Leu)	CTSD, PRADX (S37L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 2104888	NM_001909.5(CTSD):c.106A>G (p.Met36Val)	CTSD, PRADX (M36V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1532296	NM_001909.5(CTSD):c.105C>T (p.Thr35=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 527751	NM_001909.5(CTSD):c.101G>A (p.Arg34Gln)	CTSD, PRADX (R34Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 205348	NM_001909.5(CTSD):c.100C>T (p.Arg34Trp)	PRADX, CTSD (R34W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 748582	NM_001909.5(CTSD):c.99C>G (p.Arg33=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2048121	NM_001909.5(CTSD):c.98G>A (p.Arg33His)	CTSD, PRADX (R33H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2188717	NM_001909.5(CTSD):c.97C>T (p.Arg33Cys)	CTSD, PRADX (R33C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1922397	NM_001909.5(CTSD):c.94A>G (p.Ile32Val)	CTSD, PRADX (I32V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 303841	NM_001909.5(CTSD):c.90G>A (p.Thr30=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 449144	NM_001909.5(CTSD):c.89C>T (p.Thr30Met)	CTSD, PRADX (T30M)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 2154561	NM_001909.5(CTSD):c.84G>A (p.Lys28=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2009761	NM_001909.5(CTSD):c.82A>G (p.Lys28Glu)	CTSD, PRADX (K28E)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 546437	NM_001909.5(CTSD):c.76C>A (p.Leu26Met)	CTSD, PRADX (L26M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195156	NM_001909.5(CTSD):c.75G>A (p.Pro25=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	CTSD-related condition +3 more	GConflicting classifications of pathogenicity
Select item 652296	NM_001909.5(CTSD):c.74C>T (p.Pro25Leu)	CTSD, PRADX (P25L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 848648	NM_001909.5(CTSD):c.73C>T (p.Pro25Ser)	CTSD, PRADX (P25S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1999299	NM_001909.5(CTSD):c.72C>G (p.Ile24Met)	CTSD, PRADX (I24M)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 846978	NM_001909.5(CTSD):c.70A>T (p.Ile24Phe)	CTSD, PRADX (I24F)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2892594	NM_001909.5(CTSD):c.69-1G>A	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 1612634	NM_001909.5(CTSD):c.69-11G>A	CTSD, PRADX	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1612251	NM_001909.5(CTSD):c.69-11G>C	CTSD, PRADX	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1388861	NM_001909.5(CTSD):c.69-12C>A	CTSD, PRADX	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 515813	NM_001909.5(CTSD):c.69-12C>T	CTSD, PRADX	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2731750	NM_001909.5(CTSD):c.69-14C>T	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2909217	NM_001909.5(CTSD):c.69-15A>G	CTSD, PRADX	Single nucleotide variant (intron variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign

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