ClinVar for Gene (Select 8242) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236412	NM_004187.5(KDM5C):c.964A>G (p.Ile322Val)	KDM5C (I255V +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 3235010	NM_004187.5(KDM5C):c.1839G>T (p.Glu613Asp)	KDM5C (E546D +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 3113872	NM_004187.5(KDM5C):c.3692del (p.Pro1231fs)	KDM5C (P1164fs +2 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 3113871	NM_004187.5(KDM5C):c.2374G>A (p.Glu792Lys)	KDM5C (E792K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3113870	NM_004187.5(KDM5C):c.2275_2276dup (p.Met759fs)	KDM5C (M692fs +2 more)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 3113869	NM_004187.5(KDM5C):c.1637A>T (p.Glu546Val)	KDM5C (E545V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3075726	NM_004187.5(KDM5C):c.3749C>G (p.Ser1250Ter)	KDM5C (S1183* +2 more)	Single nucleotide variant (nonsense +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GPathogenic
Select item 3068573	NM_004187.5(KDM5C):c.2209C>G (p.Leu737Val)	KDM5C (L670V +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 3067448	NM_004187.5(KDM5C):c.3192G>T (p.Gly1064=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3066268	NM_004187.5(KDM5C):c.1922T>G (p.Val641Gly)	KDM5C (V574G +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 3065005	NM_004187.5(KDM5C):c.3499A>G (p.Thr1167Ala)	KDM5C (T1100A +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 3062570	GRCh37/hg19 Xp11.22(chrX:53130035-53289919)	IQSEC2, KDM5C	Copy number gain	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062509	GRCh37/hg19 Xp11.22(chrX:53155402-53787878)	HSD17B10, HUWE1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3053359	NM_004187.5(KDM5C):c.771G>A (p.Leu257=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	KDM5C-related disorder	GLikely benign
Select item 3052750	NM_004187.5(KDM5C):c.1929C>G (p.Ser643=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	KDM5C-related disorder	GLikely benign
Select item 3049335	NM_004187.5(KDM5C):c.*133T>A	KDM5C	Single nucleotide variant (synonymous variant +2 more)	KDM5C-related disorder	GLikely benign
Select item 3039953	NM_004187.5(KDM5C):c.3831C>A (p.Ala1277=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	KDM5C-related disorder	GLikely benign
Select item 3038478	NM_004187.5(KDM5C):c.2868G>C (p.Ala956=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	KDM5C-related disorder	GLikely benign
Select item 3035595	NM_004187.5(KDM5C):c.1836C>T (p.Ala612=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	KDM5C-related disorder	GLikely benign
Select item 3029950	NM_004187.5(KDM5C):c.2609T>C (p.Ile870Thr)	KDM5C (I803T +2 more)	Single nucleotide variant (missense variant +1 more)	KDM5C-related disorder	GUncertain significance
Select item 3025711	NM_004187.5(KDM5C):c.4518C>G (p.Gly1506=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3024334	NM_004187.5(KDM5C):c.3199G>T (p.Glu1067Ter)	KDM5C (E1000* +2 more)	Single nucleotide variant (nonsense +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 3024093	NM_004187.5(KDM5C):c.3845_3846del (p.Thr1282fs)	KDM5C (T1282fs +2 more)	Microsatellite (frameshift variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 3024062	NM_004187.5(KDM5C):c.2586C>T (p.Asn862=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 3022726	NM_004187.5(KDM5C):c.237G>A (p.Thr79=)	KDM5C	Single nucleotide variant (synonymous variant +2 more)	Spastic paraplegia	GLikely benign
Select item 3021490	NM_004187.5(KDM5C):c.2622+14G>C	KDM5C	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3020390	NM_004187.5(KDM5C):c.4045G>T (p.Gly1349Cys)	KDM5C (G1348C +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 3018774	NM_004187.5(KDM5C):c.3253G>T (p.Ala1085Ser)	KDM5C (A1018S +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 3015968	NM_004187.5(KDM5C):c.2041C>A (p.Arg681=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GBenign
Select item 3014389	NM_004187.5(KDM5C):c.3930G>A (p.Glu1310=)	KDM5C	Single nucleotide variant (non-coding transcript variant +1 more)	Spastic paraplegia	GLikely benign
Select item 3003549	NM_004187.5(KDM5C):c.2912C>T (p.Ala971Val)	KDM5C (A971V +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2994661	NM_004187.5(KDM5C):c.1476A>G (p.Ala492=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2993547	NM_004187.5(KDM5C):c.2851C>A (p.Arg951=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2988522	NM_004187.5(KDM5C):c.4227C>T (p.Leu1409=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GBenign
Select item 2980548	NM_004187.5(KDM5C):c.1401+5G>A	KDM5C	Single nucleotide variant (intron variant)	Spastic paraplegia	GBenign
Select item 2979446	NM_004187.5(KDM5C):c.1077T>G (p.Pro359=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2978482	NM_004187.5(KDM5C):c.4118-14C>T	KDM5C	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2974987	NM_004187.5(KDM5C):c.4648C>T (p.Pro1550Ser)	KDM5C (P1547S +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2971430	NM_004187.5(KDM5C):c.781+1G>A	KDM5C	Single nucleotide variant (splice donor variant)	Spastic paraplegia	GLikely pathogenic
Select item 2965615	NM_004187.5(KDM5C):c.2374G>C (p.Glu792Gln)	KDM5C (E725Q +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GBenign
Select item 2965599	NM_004187.5(KDM5C):c.772C>T (p.Arg258Trp)	KDM5C (R191W +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2957001	NM_004187.5(KDM5C):c.3367C>T (p.Leu1123=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2921159	NM_004187.5(KDM5C):c.2517-15T>A	KDM5C	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 2919439	NM_004187.5(KDM5C):c.1378C>T (p.Arg460Trp)	KDM5C (R459W +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2919081	NM_004187.5(KDM5C):c.3051C>G (p.Pro1017=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GBenign
Select item 2917455	NM_004187.5(KDM5C):c.2166C>T (p.Tyr722=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GBenign
Select item 2915387	NM_004187.5(KDM5C):c.2865C>T (p.Val955=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2914670	NM_004187.5(KDM5C):c.2981+12T>C	KDM5C	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2912580	NM_004187.5(KDM5C):c.2622+15A>G	KDM5C	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2910289	NM_004187.5(KDM5C):c.2368+9dup	KDM5C	Duplication (intron variant)	Spastic paraplegia	GLikely benign
Select item 2909903	NM_004187.5(KDM5C):c.3554C>T (p.Thr1185Ile)	KDM5C (T1185I +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2909009	NM_004187.5(KDM5C):c.2369-3C>T	KDM5C	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 2903799	NM_004187.5(KDM5C):c.2368+16G>T	KDM5C	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2903626	NM_004187.5(KDM5C):c.4095G>A (p.Pro1365=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2902706	NM_004187.5(KDM5C):c.4039-17C>G	KDM5C	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2901518	NM_004187.5(KDM5C):c.3855C>T (p.Ala1285=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2901318	NM_004187.5(KDM5C):c.2622+8C>T	KDM5C	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2899515	NM_004187.5(KDM5C):c.4478A>G (p.Gln1493Arg)	KDM5C (Q1490R +2 more)	Single nucleotide variant (intron variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2898393	NM_004187.5(KDM5C):c.3677A>G (p.Asn1226Ser)	KDM5C (N1226S +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2896166	NM_004187.5(KDM5C):c.352-12T>G	KDM5C	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2895323	NM_004187.5(KDM5C):c.2838C>T (p.Thr946=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2892812	NM_004187.5(KDM5C):c.3498C>G (p.Arg1166=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2891309	NM_004187.5(KDM5C):c.1243-5C>T	KDM5C	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2891163	NM_004187.5(KDM5C):c.4564A>G (p.Asn1522Asp)	KDM5C (N1521D +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2887887	NM_004187.5(KDM5C):c.2596G>A (p.Ala866Thr)	KDM5C (A799T +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2887285	NM_004187.5(KDM5C):c.2696G>A (p.Gly899Glu)	KDM5C (G899E +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2884351	NM_004187.5(KDM5C):c.1689C>T (p.Leu563=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2884350	NM_004187.5(KDM5C):c.3945A>G (p.Leu1315=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2883799	NM_004187.5(KDM5C):c.3987A>G (p.Ala1329=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GBenign
Select item 2881350	NM_004187.5(KDM5C):c.4038+7T>C	KDM5C	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2876318	NM_004187.5(KDM5C):c.4186C>A (p.Arg1396=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GBenign
Select item 2858692	NM_004187.5(KDM5C):c.2849T>C (p.Met950Thr)	KDM5C (M883T +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2858388	NM_004187.5(KDM5C):c.2575C>A (p.Gln859Lys)	KDM5C (Q859K +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2856203	NM_004187.5(KDM5C):c.589C>T (p.Leu197=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2854870	NM_004187.5(KDM5C):c.3372G>A (p.Gly1124=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2853816	NM_004187.5(KDM5C):c.4228G>A (p.Glu1410Lys)	KDM5C (E1340K +4 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2851465	NM_004187.5(KDM5C):c.3675C>T (p.Pro1225=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2840793	NM_004187.5(KDM5C):c.631C>T (p.Arg211Trp)	KDM5C (R210W +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2838695	NM_004187.5(KDM5C):c.1653G>A (p.Lys551=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2835710	NM_004187.5(KDM5C):c.2981+1G>A	KDM5C	Single nucleotide variant (splice donor variant)	Spastic paraplegia	GLikely pathogenic
Select item 2833300	NM_004187.5(KDM5C):c.150+1G>A	KDM5C	Single nucleotide variant (splice donor variant)	Spastic paraplegia	GLikely pathogenic
Select item 2830856	NM_004187.5(KDM5C):c.817G>T (p.Val273Leu)	KDM5C (V273L +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2823247	NM_004187.5(KDM5C):c.1500_1515del (p.Leu502fs)	KDM5C (L501fs +2 more)	Deletion (frameshift variant +1 more)	Spastic paraplegia	GPathogenic
Select item 2820138	NM_004187.5(KDM5C):c.585C>T (p.Ile195=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2802591	NM_004187.5(KDM5C):c.1117A>G (p.Met373Val)	KDM5C (M306V +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2801446	NM_004187.5(KDM5C):c.228G>A (p.Glu76=)	KDM5C	Single nucleotide variant (synonymous variant +2 more)	Spastic paraplegia	GUncertain significance
Select item 2793306	NM_004187.5(KDM5C):c.2175A>G (p.Pro725=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2790445	NM_004187.5(KDM5C):c.786G>A (p.Lys262=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GBenign
Select item 2788125	NM_004187.5(KDM5C):c.2315C>A (p.Thr772Asn)	KDM5C (T772N +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2777740	NM_004187.5(KDM5C):c.471C>T (p.Tyr157=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2770790	NM_004187.5(KDM5C):c.2547C>A (p.Thr849=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2769116	NM_004187.5(KDM5C):c.4317+2T>C	KDM5C	Single nucleotide variant (splice donor variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2768454	NM_004187.5(KDM5C):c.4019G>C (p.Ser1340Thr)	KDM5C (S1273T +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2766715	NM_004187.5(KDM5C):c.3961C>T (p.Pro1321Ser)	KDM5C (P1254S +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2763266	NM_004187.5(KDM5C):c.3507G>A (p.Ser1169=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2756790	NM_004187.5(KDM5C):c.1746+10C>T	KDM5C	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2756787	NM_004187.5(KDM5C):c.974_975del (p.Tyr325fs)	KDM5C (Y325fs +2 more)	Microsatellite (frameshift variant +1 more)	Spastic paraplegia	GPathogenic
Select item 2756716	NM_004187.5(KDM5C):c.3066C>G (p.Leu1022=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign

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