ClinVar for MedGen (Select 335139) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237467	NM_004187.5(KDM5C):c.1866G>A (p.Trp622Ter)	KDM5C (W555* +2 more)	Single nucleotide variant (nonsense +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GPathogenic
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 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 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 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 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 2672085	NM_004187.5(KDM5C):c.469T>A (p.Tyr157Asn)	KDM5C (Y157N +1 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	Gnot provided
Select item 2582636	NM_004187.5(KDM5C):c.1318T>G (p.Tyr440Asp)	KDM5C (Y373D +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 2580905	NM_004187.5(KDM5C):c.3624G>A (p.Trp1208Ter)	KDM5C (W1141* +2 more)	Single nucleotide variant (nonsense +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GPathogenic
Select item 2580449	NM_004187.5(KDM5C):c.548A>G (p.Asn183Ser)	KDM5C (N116S +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type +1 more	GUncertain significance
Select item 2579750	NM_004187.5(KDM5C):c.2704C>T (p.Gln902Ter)	KDM5C (Q835* +2 more)	Single nucleotide variant (nonsense +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GPathogenic
Select item 2578537	NM_004187.5(KDM5C):c.94G>T (p.Ala32Ser)	KDM5C, LOC130068308 (A32S)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 2501589	NM_004187.5(KDM5C):c.4118-9A>G	KDM5C	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2442352	NM_004187.5(KDM5C):c.1616C>G (p.Ser539Ter)	KDM5C (S472* +2 more)	Single nucleotide variant (nonsense +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GPathogenic
Select item 2442049	NM_004187.5(KDM5C):c.1267_1269del (p.Lys423del)	KDM5C (K356del +2 more)	Deletion (inframe_deletion +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type +1 more	GUncertain significance
Select item 2433068	NM_004187.5(KDM5C):c.3962C>G (p.Pro1321Arg)	KDM5C (P1254R +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 2433067	NM_004187.5(KDM5C):c.1243-3C>T	KDM5C	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 2433066	NM_004187.5(KDM5C):c.2909A>T (p.Gln970Leu)	KDM5C (Q903L +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 2433065	NM_004187.5(KDM5C):c.4343G>A (p.Ser1448Asn)	KDM5C (S1445N +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 2433064	NM_004187.5(KDM5C):c.802C>T (p.Pro268Ser)	KDM5C (P201S +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 2430141	NM_004187.5(KDM5C):c.3656T>G (p.Leu1219Arg)	KDM5C (L1152R +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 2430130	NM_004187.5(KDM5C):c.2993del (p.Pro998fs)	KDM5C (P931fs +2 more)	Deletion (frameshift variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GPathogenic
Select item 1806234	NM_004187.5(KDM5C):c.3961C>A (p.Pro1321Thr)	KDM5C (P1254T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1806105	NM_004187.5(KDM5C):c.917C>T (p.Thr306Ile)	KDM5C (T239I +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 1805853	NM_004187.5(KDM5C):c.189C>A (p.Phe63Leu)	KDM5C (F63L)	Single nucleotide variant (missense variant +2 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 1805730	NM_004187.5(KDM5C):c.2813_2816dup (p.Pro940fs)	KDM5C (P873fs +2 more)	Duplication (frameshift variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GPathogenic
Select item 1803987	NM_004187.5(KDM5C):c.2214C>A (p.Cys738Ter)	KDM5C (C671* +2 more)	Single nucleotide variant (nonsense +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GPathogenic
Select item 1802243	NM_004187.5(KDM5C):c.2785C>G (p.Arg929Gly)	KDM5C (R862G +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 1720027	NM_004187.5(KDM5C):c.1793C>G (p.Pro598Arg)	KDM5C (P531R +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1710153	NM_004187.5(KDM5C):c.1204G>A (p.Asp402Asn)	KDM5C (D335N +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 1709643	NM_004187.5(KDM5C):c.1447del (p.Glu483fs)	KDM5C (E416fs +2 more)	Deletion (frameshift variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 1709074	NM_004187.5(KDM5C):c.3208C>T (p.Gln1070Ter)	KDM5C (Q1003* +2 more)	Single nucleotide variant (nonsense +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 1709022	NM_004187.5(KDM5C):c.2474G>A (p.Cys825Tyr)	KDM5C (C758Y +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 1699460	NM_004187.5(KDM5C):c.359T>C (p.Val120Ala)	KDM5C (V120A +1 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 1699148	NM_004187.5(KDM5C):c.2248C>T (p.Arg750Trp)	KDM5C (R683W +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +1 more	GLikely pathogenic
Select item 1698797	NM_004187.5(KDM5C):c.1549dup (p.Asp517fs)	KDM5C (D450fs +2 more)	Duplication (frameshift variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 1698758	NM_004187.5(KDM5C):c.2624G>A (p.Gly875Asp)	KDM5C (G808D +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 1698037	NM_004187.5(KDM5C):c.659C>T (p.Pro220Leu)	KDM5C (P153L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1687719	NM_004187.5(KDM5C):c.4118-2A>G	KDM5C	Single nucleotide variant (splice acceptor variant)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 1685906	NM_004187.5(KDM5C):c.994C>T (p.Arg332Ter)	KDM5C (R265* +2 more)	Single nucleotide variant (nonsense +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type +1 more	GPathogenic
Select item 1685904	NM_004187.5(KDM5C):c.997G>C (p.Gly333Arg)	KDM5C (G266R +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GPathogenic
Select item 1683616	NM_004187.5(KDM5C):c.1681C>G (p.Pro561Ala)	KDM5C (P494A +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 1679365	NM_004187.5(KDM5C):c.12dup (p.Ser5fs)	KDM5C (S5fs)	Duplication (frameshift variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GPathogenic
Select item 1678719	NM_004187.5(KDM5C):c.3072G>T (p.Glu1024Asp)	KDM5C (E1023D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1537314	NM_004187.5(KDM5C):c.3940C>T (p.Arg1314Trp)	KDM5C (R1247W +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type +1 more	GConflicting classifications of pathogenicity
Select item 1527871	NM_004187.5(KDM5C):c.1862A>G (p.Asp621Gly)	KDM5C (D554G +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 1455486	NM_004187.5(KDM5C):c.2908C>T (p.Gln970Ter)	KDM5C (Q970* +2 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia +1 more	GPathogenic
Select item 1335879	NM_004187.5(KDM5C):c.1565C>T (p.Ser522Phe)	KDM5C (S455F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1334775	NM_004187.5(KDM5C):c.2517_2622del	KDM5C	Deletion (splice acceptor variant)	Syndromic X-linked intellectual disability Claes-Jensen type	GPathogenic
Select item 1334766	NM_004187.5(KDM5C):c.322C>T (p.Arg108Trp)	KDM5C (R108W)	Single nucleotide variant (missense variant +2 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 1321291	NM_004187.5(KDM5C):c.1586G>C (p.Gly529Ala)	KDM5C (G462A +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 1321288	NM_004187.5(KDM5C):c.2517-7T>G	KDM5C	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 1320173	NM_004187.5(KDM5C):c.1602G>C (p.Trp534Cys)	KDM5C (W467C +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 1319929	NM_004187.5(KDM5C):c.1361_1362del (p.Pro454fs)	KDM5C (P387fs +2 more)	Deletion (frameshift variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GPathogenic
Select item 1308648	NM_004187.5(KDM5C):c.208C>T (p.Gln70Ter)	KDM5C (Q70*)	Single nucleotide variant (nonsense +2 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 1308631	NM_004187.5(KDM5C):c.1843G>T (p.Val615Phe)	KDM5C (V548F +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 1303139	NM_004187.5(KDM5C):c.3965_3985del (p.Glu1322_Pro1328del)	KDM5C	Deletion (inframe_deletion +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type +1 more	GUncertain significance
Select item 1213777	NM_004187.5(KDM5C):c.2674G>A (p.Ala892Thr)	KDM5C (A825T +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 1209852	NM_004187.5(KDM5C):c.2116C>T (p.Gln706Ter)	KDM5C (Q639* +2 more)	Single nucleotide variant (nonsense +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GPathogenic
Select item 1194188	NM_004187.5(KDM5C):c.2866G>A (p.Ala956Thr)	KDM5C (A889T +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +2 more	GUncertain significance
Select item 1174937	NM_004187.5(KDM5C):c.80C>T (p.Pro27Leu)	KDM5C, LOC130068308 (P27L)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GPathogenic
Select item 1174507	NM_004187.5(KDM5C):c.1823G>T (p.Gly608Val)	KDM5C (G541V +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 1098622	NM_004187.5(KDM5C):c.865A>G (p.Lys289Glu)	KDM5C (K222E +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 1098600	NM_004187.5(KDM5C):c.3758C>T (p.Pro1253Leu)	KDM5C (P1186L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1098577	NM_004187.5(KDM5C):c.4523C>T (p.Pro1508Leu)	KDM5C (P1505L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1034062	NM_004187.5(KDM5C):c.3244dup (p.Arg1082fs)	KDM5C (R1015fs +2 more)	Duplication (non-coding transcript variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GPathogenic
Select item 1028701	NM_004187.5(KDM5C):c.893T>A (p.Leu298Gln)	KDM5C (L297Q +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 1028199	NM_004187.5(KDM5C):c.2768G>A (p.Arg923Gln)	KDM5C (R856Q +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 986232	NM_004187.5(KDM5C):c.269C>T (p.Ala90Val)	KDM5C (A90V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 982745	NM_004187.5(KDM5C):c.3412C>T (p.Gln1138Ter)	KDM5C (Q1071* +2 more)	Single nucleotide variant (nonsense +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 982602	NM_004187.5(KDM5C):c.475C>T (p.Arg159Cys)	KDM5C (R159C +1 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 981741	NM_004187.5(KDM5C):c.3332_3335del (p.Asp1111fs)	KDM5C (D1044fs +2 more)	Deletion (frameshift variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 981217	NM_004187.5(KDM5C):c.1583+5G>T	KDM5C	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 973225	NM_004187.5(KDM5C):c.3895G>T (p.Glu1299Ter)	KDM5C (E1232* +2 more)	Single nucleotide variant (nonsense +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GPathogenic
Select item 972937	NM_004187.5(KDM5C):c.4286C>T (p.Pro1429Leu)	KDM5C (P1428L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 945345	NM_004187.5(KDM5C):c.860C>T (p.Ser287Leu)	KDM5C (S220L +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type +1 more	GConflicting classifications of pathogenicity
Select item 873536	NM_004187.5(KDM5C):c.1354G>A (p.Gly452Ser)	KDM5C (G385S +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +1 more	GUncertain significance
Select item 869147	NM_004187.5(KDM5C):c.2243+1G>T	KDM5C	Single nucleotide variant (splice donor variant)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 816647	NM_004187.5(KDM5C):c.3517A>T (p.Ser1173Cys)	KDM5C (S1172C +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 813905	NM_004187.5(KDM5C):c.255C>G (p.Tyr85Ter)	KDM5C (Y85*)	Single nucleotide variant (nonsense +2 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 696923	NM_004187.5(KDM5C):c.2112G>A (p.Glu704=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 691272	NM_004187.5(KDM5C):c.1747G>T (p.Val583Phe)	KDM5C (V516F +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 666339	NM_004187.5(KDM5C):c.1866G>T (p.Trp622Cys)	KDM5C (W555C +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 666338	NM_004187.5(KDM5C):c.589dup (p.Leu197fs)	KDM5C (L130fs +2 more)	Duplication (frameshift variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 638505	NM_004187.5(KDM5C):c.*129C>T	KDM5C	Single nucleotide variant (3 prime UTR variant +2 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 635109	NM_004187.5(KDM5C):c.807del (p.Thr270fs)	KDM5C (T203fs +2 more)	Deletion (frameshift variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GPathogenic/Likely pathogenic
Select item 620032	NM_004187.5(KDM5C):c.3570_3573del (p.Gly1191fs)	KDM5C (G1191fs +2 more)	Deletion (frameshift variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GPathogenic
Select item 620025	NM_004187.5(KDM5C):c.100del (p.Ile34fs)	LOC130068308, KDM5C (I34fs)	Deletion (frameshift variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 620008	NM_004187.5(KDM5C):c.593G>A (p.Arg198Gln)	KDM5C (R198Q +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 592134	NM_004187.5(KDM5C):c.2114G>A (p.Arg705His)	KDM5C (R705H +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 559937	NM_004187.5(KDM5C):c.1795C>T (p.Arg599Cys)	KDM5C (R599C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 522629	NM_004187.5(KDM5C):c.3442G>A (p.Val1148Met)	KDM5C (V1081M +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type +1 more	GBenign/Likely benign
Select item 520414	NM_004187.5(KDM5C):c.595C>T (p.Gln199Ter)	KDM5C (Q199* +2 more)	Single nucleotide variant (nonsense +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type +1 more	GPathogenic
Select item 489301	NM_004187.5(KDM5C):c.3058C>T (p.Gln1020Ter)	KDM5C (Q1020* +2 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 451422	NM_004187.5(KDM5C):c.470A>G (p.Tyr157Cys)	KDM5C (Y157C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 449843	NM_004187.5(KDM5C):c.3635G>A (p.Arg1212Gln)	KDM5C (R1212Q +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type +1 more	GUncertain significance

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