ZFR[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 144306	GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	ADAMTS16, ADAMTS16-DT +642 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 59606	GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1	ADAMTS12, AGXT2 +116 more	Copy number loss	See cases	GPathogenic
Select item 146364	GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1	ADAMTS12, AGXT2 +128 more	Copy number loss	See cases	GLikely pathogenic
Select item 2037409	NM_016107.5(ZFR):c.3211T>C (p.Tyr1071His)	ZFR (Y1071H)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 1523151	NM_016107.5(ZFR):c.3114G>A (p.Met1038Ile)	ZFR (M1038I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1361527	NM_016107.5(ZFR):c.3112A>G (p.Met1038Val)	ZFR (M1038V)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia +1 more	GUncertain significance
Select item 2957861	NM_016107.5(ZFR):c.3108G>T (p.Pro1036=)	ZFR	Single nucleotide variant (synonymous variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 2713785	NM_016107.5(ZFR):c.3108G>A (p.Pro1036=)	ZFR	Single nucleotide variant (synonymous variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 2052707	NM_016107.5(ZFR):c.3107C>T (p.Pro1036Leu)	ZFR (P1036L)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 2188494	NM_016107.5(ZFR):c.3106C>A (p.Pro1036Thr)	ZFR (P1036T)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 2109039	NM_016107.5(ZFR):c.3095T>C (p.Met1032Thr)	ZFR (M1032T)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 1898176	NM_016107.5(ZFR):c.3076A>G (p.Ile1026Val)	ZFR (I1026V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2000391	NM_016107.5(ZFR):c.3060C>T (p.Leu1020=)	ZFR	Single nucleotide variant (synonymous variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 2789770	NM_016107.5(ZFR):c.3046-9_3046-8del	ZFR	Deletion (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 951468	NM_016107.5(ZFR):c.3046-15CT[2]	ZFR	Microsatellite (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 2079126	NM_016107.5(ZFR):c.3046-20T>A	ZFR	Single nucleotide variant (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 2197980	NM_016107.5(ZFR):c.3045+9A>G	ZFR	Single nucleotide variant (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 1573886	NM_016107.5(ZFR):c.3030C>T (p.Ile1010=)	ZFR	Single nucleotide variant (synonymous variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 3235755	NM_016107.5(ZFR):c.3020G>A (p.Arg1007His)	ZFR (R1007H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2253563	NM_016107.5(ZFR):c.3006G>A (p.Met1002Ile)	ZFR (M1002I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2108621	NM_016107.5(ZFR):c.2981A>T (p.Asp994Val)	ZFR (D994V)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 2743741	NM_016107.5(ZFR):c.2963T>C (p.Leu988Pro)	ZFR (L988P)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 2004057	NM_016107.5(ZFR):c.2948-4G>A	ZFR	Single nucleotide variant (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 2730648	NM_016107.5(ZFR):c.2948-8T>G	ZFR	Single nucleotide variant (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 1919130	NM_016107.5(ZFR):c.2947+14T>G	ZFR	Single nucleotide variant (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 2761895	NM_016107.5(ZFR):c.2941C>G (p.Leu981Val)	ZFR (L981V)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 3046769	NM_016107.5(ZFR):c.2895G>A (p.Gly965=)	ZFR	Single nucleotide variant (synonymous variant +1 more)	ZFR-related disorder	GLikely benign
Select item 1922851	NM_016107.5(ZFR):c.2835+16C>T	ZFR	Single nucleotide variant (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GBenign
Select item 2061869	NM_016107.5(ZFR):c.2835+13T>C	ZFR	Single nucleotide variant (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 1547673	NM_016107.5(ZFR):c.2835+11C>T	ZFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1606991	NM_016107.5(ZFR):c.2835+8G>A	ZFR	Single nucleotide variant (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 1128550	NM_016107.5(ZFR):c.2814T>C (p.Thr938=)	ZFR	Single nucleotide variant (synonymous variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 1043537	NM_016107.5(ZFR):c.2785C>T (p.Leu929Phe)	ZFR (L929F)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 3034646	NM_016107.5(ZFR):c.2754T>G (p.Gly918=)	ZFR	Single nucleotide variant (synonymous variant +1 more)	ZFR-related disorder	GLikely benign
Select item 2397064	NM_016107.5(ZFR):c.2744G>A (p.Arg915Lys)	ZFR (R915K)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia +1 more	GUncertain significance
Select item 2878465	NM_016107.5(ZFR):c.2740-3A>C	ZFR	Single nucleotide variant (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 1379058	NM_016107.5(ZFR):c.2739+4C>T	ZFR	Single nucleotide variant (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 981915	NM_016107.5(ZFR):c.2667C>G (p.Asp889Glu)	ZFR (D889E)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 774269	NM_016107.5(ZFR):c.2649C>A (p.Thr883=)	ZFR	Single nucleotide variant (synonymous variant)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 1985683	NM_016107.5(ZFR):c.2639G>A (p.Gly880Glu)	ZFR (G880E)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 2713311	NM_016107.5(ZFR):c.2593A>G (p.Ile865Val)	ZFR (I865V)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 2910956	NM_016107.5(ZFR):c.2578A>G (p.Lys860Glu)	ZFR (K860E)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 2169652	NM_016107.5(ZFR):c.2572G>A (p.Glu858Lys)	ZFR (E858K)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 3193312	NM_016107.5(ZFR):c.2563T>G (p.Ser855Ala)	ZFR (S855A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220196	NM_016107.5(ZFR):c.2551A>G (p.Ile851Val)	ZFR (I851V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1486587	NM_016107.5(ZFR):c.2539T>A (p.Ser847Thr)	ZFR (S847T)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 3011053	NM_016107.5(ZFR):c.2520T>C (p.Tyr840=)	ZFR	Single nucleotide variant (synonymous variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 1911195	NM_016107.5(ZFR):c.2500-20T>G	ZFR	Single nucleotide variant (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 1554492	NM_016107.5(ZFR):c.2499+15A>G	ZFR	Single nucleotide variant (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 954666	NM_016107.5(ZFR):c.2498C>G (p.Ala833Gly)	ZFR (A833G)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 1515567	NM_016107.5(ZFR):c.2488A>G (p.Lys830Glu)	ZFR (K830E)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 715367	NM_016107.5(ZFR):c.2457A>G (p.Thr819=)	ZFR	Single nucleotide variant (synonymous variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 2559745	NM_016107.5(ZFR):c.2456C>G (p.Thr819Arg)	ZFR (T819R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2915276	NM_016107.5(ZFR):c.2422C>T (p.Leu808Phe)	ZFR (L808F)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 703242	NM_016107.5(ZFR):c.2409T>C (p.Asp803=)	ZFR	Single nucleotide variant (synonymous variant +1 more)	Pure or complex autosomal recessive spastic paraplegia +1 more	GBenign
Select item 1718782	NM_016107.5(ZFR):c.2366T>G (p.Leu789Trp)	ZFR (L789W)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 2980448	NM_016107.5(ZFR):c.2349-10T>G	ZFR	Single nucleotide variant (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 1622725	NM_016107.5(ZFR):c.2349-12A>G	ZFR	Single nucleotide variant (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 2080088	NM_016107.5(ZFR):c.2348+7T>C	ZFR	Single nucleotide variant (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 1131863	NM_016107.5(ZFR):c.2337A>G (p.Gly779=)	ZFR	Single nucleotide variant (synonymous variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 1126188	NM_016107.5(ZFR):c.2334G>A (p.Glu778=)	ZFR	Single nucleotide variant (synonymous variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 2607736	NM_016107.5(ZFR):c.2333A>G (p.Glu778Gly)	ZFR (E778G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2760116	NM_016107.5(ZFR):c.2319A>C (p.Gly773=)	ZFR	Single nucleotide variant (synonymous variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 2858918	NM_016107.5(ZFR):c.2294A>T (p.His765Leu)	ZFR (H765L)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 753974	NM_016107.5(ZFR):c.2250T>C (p.Ile750=)	ZFR	Single nucleotide variant (synonymous variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 936680	NM_016107.5(ZFR):c.2197A>G (p.Thr733Ala)	ZFR (T733A)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 2902927	NM_016107.5(ZFR):c.2178T>C (p.Tyr726=)	ZFR	Single nucleotide variant (synonymous variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 2264136	NM_016107.5(ZFR):c.2153G>A (p.Arg718His)	ZFR (R718H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2420092	NM_016107.5(ZFR):c.2142+13G>A	ZFR	Single nucleotide variant (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 3044538	NM_016107.5(ZFR):c.2142A>G (p.Ala714=)	ZFR	Single nucleotide variant (synonymous variant +1 more)	ZFR-related disorder	GLikely benign
Select item 2180905	NM_016107.5(ZFR):c.2138C>T (p.Pro713Leu)	ZFR (P713L)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 2308522	NM_016107.5(ZFR):c.2087C>A (p.Pro696Gln)	ZFR (P696Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 694656	NM_016107.5(ZFR):c.2072A>C (p.His691Pro)	ZFR (H691P)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 647901	NM_016107.5(ZFR):c.2042G>A (p.Arg681His)	ZFR (R681H)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 752951	NM_016107.5(ZFR):c.2025A>G (p.Gln675=)	ZFR	Single nucleotide variant (synonymous variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 640258	NM_016107.5(ZFR):c.2006G>A (p.Arg669Lys)	ZFR (R669K)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia +1 more	GUncertain significance
Select item 1022028	NM_016107.5(ZFR):c.1984T>C (p.Tyr662His)	ZFR (Y662H)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia +1 more	GUncertain significance
Select item 2045339	NM_016107.5(ZFR):c.1980-17C>T	ZFR	Single nucleotide variant (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 3010743	NM_016107.5(ZFR):c.1979+17T>C	ZFR	Single nucleotide variant (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 2419458	NM_016107.5(ZFR):c.1947AGA[2] (p.Glu653del)	ZFR (E653del)	Microsatellite (inframe_deletion +1 more)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 544264	NM_016107.5(ZFR):c.1953A>G (p.Glu651=)	ZFR	Single nucleotide variant (synonymous variant +1 more)	Pure or complex autosomal recessive spastic paraplegia +1 more	GBenign
Select item 1531537	NM_016107.5(ZFR):c.1896A>G (p.Gln632=)	ZFR	Single nucleotide variant (synonymous variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 3334562	NM_016107.5(ZFR):c.1882G>A (p.Ala628Thr)	ZFR (A628T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2056191	NM_016107.5(ZFR):c.1834-11T>C	ZFR	Single nucleotide variant (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 2776631	NM_016107.5(ZFR):c.1834-19G>A	ZFR	Single nucleotide variant (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 2737745	NM_016107.5(ZFR):c.1833+19A>T	ZFR	Single nucleotide variant (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 2080451	NM_016107.5(ZFR):c.1784A>G (p.Asn595Ser)	ZFR (N595S)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 842659	NM_016107.5(ZFR):c.1761C>T (p.Cys587=)	ZFR	Single nucleotide variant (synonymous variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 2195421	NM_016107.5(ZFR):c.1714G>A (p.Val572Ile)	ZFR (V572I)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia	GUncertain significance
Select item 1629664	NM_016107.5(ZFR):c.1714-5C>T	ZFR	Single nucleotide variant (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 1936908	NM_016107.5(ZFR):c.1713+8A>G	ZFR	Single nucleotide variant (intron variant)	Pure or complex autosomal recessive spastic paraplegia	GLikely benign
Select item 544265	NM_016107.5(ZFR):c.1713+6T>C	ZFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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