ClinVar for Gene (Select 5927) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375408	NM_001042603.3(KDM5A):c.4074+1G>A	KDM5A, LOC126861410	Single nucleotide variant (splice donor variant)	El Hayek-Chahrour neurodevelopmental disorder	GLikely pathogenic
Select item 3371088	NM_001042603.3(KDM5A):c.3848T>C (p.Met1283Thr)	KDM5A, LOC126861410 (M1283T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369243	NM_001042603.3(KDM5A):c.2902del (p.Arg968fs)	KDM5A (R968fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3368463	NM_001042603.3(KDM5A):c.4395dup (p.Trp1466fs)	KDM5A (W1466fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3364979	NM_001042603.3(KDM5A):c.244-2A>C	KDM5A	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3364331	NM_001042603.3(KDM5A):c.65T>C (p.Phe22Ser)	KDM5A (F22S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3349782	NM_001042603.3(KDM5A):c.2735C>A (p.Ser912Ter)	KDM5A (S912*)	Single nucleotide variant (nonsense)	KDM5A-related disorder	GUncertain significance
Select item 3349590	NM_001042603.3(KDM5A):c.1429T>C (p.Phe477Leu)	KDM5A (F477L)	Single nucleotide variant (missense variant)	KDM5A-related disorder	GUncertain significance
Select item 3348460	NM_001042603.3(KDM5A):c.3971T>G (p.Val1324Gly)	KDM5A, LOC126861410 (V1324G)	Single nucleotide variant (missense variant)	KDM5A-related disorder	GUncertain significance
Select item 3339065	NM_001042603.3(KDM5A):c.2494C>T (p.Gln832Ter)	KDM5A (Q832*)	Single nucleotide variant (nonsense)	El Hayek-Chahrour neurodevelopmental disorder	GPathogenic
Select item 3287945	NM_001042603.3(KDM5A):c.4027A>C (p.Thr1343Pro)	KDM5A, LOC126861410 (T1343P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287944	NM_001042603.3(KDM5A):c.884T>C (p.Val295Ala)	KDM5A (V295A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287943	NM_001042603.3(KDM5A):c.3080C>G (p.Ser1027Cys)	KDM5A (S1027C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287942	NM_001042603.3(KDM5A):c.4930T>G (p.Ser1644Ala)	KDM5A (S1644A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287940	NM_001042603.3(KDM5A):c.2848A>G (p.Thr950Ala)	KDM5A (T950A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287939	NM_001042603.3(KDM5A):c.4478C>T (p.Pro1493Leu)	KDM5A (P1493L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287938	NM_001042603.3(KDM5A):c.4440C>G (p.Phe1480Leu)	KDM5A (F1480L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287937	NM_001042603.3(KDM5A):c.3032T>C (p.Ile1011Thr)	KDM5A (I1011T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287936	NM_001042603.3(KDM5A):c.2647A>G (p.Ser883Gly)	KDM5A (S883G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287935	NM_001042603.3(KDM5A):c.5047A>G (p.Met1683Val)	KDM5A (M1683V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3287934	NM_001042603.3(KDM5A):c.3016G>A (p.Ala1006Thr)	KDM5A (A1006T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3287933	NM_001042603.3(KDM5A):c.3062A>G (p.Glu1021Gly)	KDM5A (E1021G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235141	NM_001042603.3(KDM5A):c.1429T>G (p.Phe477Val)	KDM5A	Single nucleotide variant (missense variant)	El Hayek-Chahrour neurodevelopmental disorder	GPathogenic
Select item 3235140	NM_001042603.3(KDM5A):c.2541+1G>T	KDM5A	Single nucleotide variant (splice donor variant)	El Hayek-Chahrour neurodevelopmental disorder	GPathogenic
Select item 3235139	NM_001042603.3(KDM5A):c.672+1488_1149+711del	KDM5A	Deletion (splice acceptor variant +1 more)	El Hayek-Chahrour neurodevelopmental disorder	GPathogenic
Select item 3113851	NM_001042603.3(KDM5A):c.83A>G (p.Glu28Gly)	KDM5A (E28G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113850	NM_001042603.3(KDM5A):c.779A>G (p.Asp260Gly)	KDM5A (D260G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113849	NM_001042603.3(KDM5A):c.4978A>G (p.Lys1660Glu)	KDM5A (K1660E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113848	NM_001042603.3(KDM5A):c.4373C>A (p.Ser1458Tyr)	KDM5A (S1458Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113847	NM_001042603.3(KDM5A):c.3849G>T (p.Met1283Ile)	KDM5A, LOC126861410 (M1283I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113846	NM_001042603.3(KDM5A):c.3776G>C (p.Arg1259Thr)	KDM5A, LOC126861410 (R1259T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113845	NM_001042603.3(KDM5A):c.3590A>C (p.Gln1197Pro)	KDM5A, LOC126861410 (Q1197P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113844	NM_001042603.3(KDM5A):c.3436G>A (p.Ala1146Thr)	KDM5A (A1146T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113843	NM_001042603.3(KDM5A):c.32C>T (p.Ala11Val)	KDM5A (A11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113842	NM_001042603.3(KDM5A):c.3257G>T (p.Gly1086Val)	KDM5A (G1086V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113841	NM_001042603.3(KDM5A):c.2900C>T (p.Pro967Leu)	KDM5A (P967L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113840	NM_001042603.3(KDM5A):c.2666C>T (p.Pro889Leu)	KDM5A (P889L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113839	NM_001042603.3(KDM5A):c.2507T>C (p.Leu836Pro)	KDM5A (L836P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113838	NM_001042603.3(KDM5A):c.1889G>A (p.Gly630Glu)	KDM5A (G630E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113837	NM_001042603.3(KDM5A):c.1654G>A (p.Val552Met)	KDM5A (V552M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113836	NM_001042603.3(KDM5A):c.1105A>G (p.Met369Val)	KDM5A (M369V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113835	NM_001042603.3(KDM5A):c.1076G>A (p.Arg359Gln)	KDM5A (R359Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063267	GRCh37/hg19 12p13.33(chr12:248855-464636)x3	IQSEC3, KDM5A +2 more	Copy number gain	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3046862	NM_001042603.3(KDM5A):c.4455+6G>T	KDM5A	Single nucleotide variant (intron variant)	KDM5A-related disorder	GLikely benign
Select item 3041543	NM_001042603.3(KDM5A):c.2423A>T (p.His808Leu)	KDM5A (H808L)	Single nucleotide variant (missense variant)	KDM5A-related disorder	GBenign
Select item 3039426	NM_001042603.3(KDM5A):c.2151-4G>T	KDM5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3038049	NM_001042603.3(KDM5A):c.99C>T (p.Leu33=)	KDM5A	Single nucleotide variant (synonymous variant)	KDM5A-related disorder	GLikely benign
Select item 3037632	NM_001042603.3(KDM5A):c.1136A>G (p.Asn379Ser)	KDM5A (N379S)	Single nucleotide variant (missense variant)	KDM5A-related disorder	GLikely benign
Select item 3035222	NM_001042603.3(KDM5A):c.2151-17_2151-5dup	KDM5A	Duplication (intron variant)	KDM5A-related disorder	GLikely benign
Select item 3024577	GRCh37/hg19 12p13.33(chr12:247433-461490)x1	IQSEC3, KDM5A +2 more	Copy number loss	not provided	GUncertain significance
Select item 2866731	NM_001042603.3(KDM5A):c.23dup (p.Tyr9fs)	KDM5A (Y9fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2836811	NM_001042603.3(KDM5A):c.4270C>T (p.Pro1424Ser)	KDM5A (P1424S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689300	NM_001042603.3(KDM5A):c.791G>A (p.Arg264Gln)	KDM5A (R264Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685430	GRCh37/hg19 12p13.33(chr12:332362-534957)x1	CCDC77, KDM5A +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685429	GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1	ADIPOR2, AKAP3 +40 more	Copy number loss	not provided	GPathogenic
Select item 2685428	GRCh37/hg19 12p13.33(chr12:173787-2431561)x1	ADIPOR2, B4GALNT3 +16 more	Copy number loss	not provided	GUncertain significance
Select item 2684663	GRCh37/hg19 12p13.33(chr12:332362-1590974)x3	B4GALNT3, CCDC77 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2662196	NM_001042603.3(KDM5A):c.2206G>A (p.Ala736Thr)	KDM5A (A736T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662148	NM_001042603.3(KDM5A):c.2938del (p.Glu980fs)	KDM5A (E980fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2642562	NM_001042603.3(KDM5A):c.3705G>A (p.Lys1235=)	KDM5A, LOC126861410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637272	NM_001042603.3(KDM5A):c.2234G>C (p.Arg745Pro)	KDM5A (R745P)	Single nucleotide variant (missense variant)	KDM5A-related disorder	GUncertain significance
Select item 2636550	NM_001042603.3(KDM5A):c.4463G>T (p.Ser1488Ile)	KDM5A (S1488I)	Single nucleotide variant (missense variant)	KDM5A-related disorder	GUncertain significance
Select item 2635432	NM_001042603.3(KDM5A):c.103T>C (p.Phe35Leu)	KDM5A (F35L)	Single nucleotide variant (missense variant)	KDM5A-related disorder	GUncertain significance
Select item 2630757	NM_001042603.3(KDM5A):c.1840G>A (p.Glu614Lys)	KDM5A (E614K)	Single nucleotide variant (missense variant)	KDM5A-related disorder	GUncertain significance
Select item 2582911	GRCh37/hg19 12p13.33(chr12:336731-674567)x3	B4GALNT3, CCDC77 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2579993	NM_001042603.3(KDM5A):c.2788del (p.Gly929_Val930insTer)	KDM5A	Deletion (nonsense)	not provided	GUncertain significance
Select item 2576949	NM_001042603.3(KDM5A):c.4463G>C (p.Ser1488Thr)	KDM5A (S1488T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576872	NM_001042603.3(KDM5A):c.2357A>T (p.Asp786Val)	KDM5A (D786V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570428	NM_001042603.3(KDM5A):c.4238C>T (p.Ser1413Phe)	KDM5A (S1413F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555839	NM_001042603.3(KDM5A):c.851G>A (p.Gly284Asp)	KDM5A (G284D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553987	NM_001042603.3(KDM5A):c.310A>G (p.Thr104Ala)	KDM5A (T104A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532429	NM_001042603.3(KDM5A):c.2270A>G (p.Lys757Arg)	KDM5A (K757R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519586	NM_001042603.3(KDM5A):c.5045C>T (p.Pro1682Leu)	KDM5A (P1682L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508283	NM_001042603.3(KDM5A):c.2632A>G (p.Ile878Val)	KDM5A (I878V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500344	NM_001042603.3(KDM5A):c.4283G>T (p.Arg1428Leu)	KDM5A (R1428L)	Single nucleotide variant (missense variant)	Seizure +1 more	GLikely pathogenic
Select item 2500343	NM_001042603.3(KDM5A):c.1A>T (p.Met1Leu)	KDM5A (M1L)	Single nucleotide variant (missense variant +1 more)	Seizure +1 more	GLikely pathogenic
Select item 2485313	NM_001042603.3(KDM5A):c.1294C>G (p.Leu432Val)	KDM5A (L432V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472668	NM_001042603.3(KDM5A):c.2234G>A (p.Arg745His)	KDM5A (R745H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470375	NM_001042603.3(KDM5A):c.4396T>C (p.Trp1466Arg)	KDM5A (W1466R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462613	NM_001042603.3(KDM5A):c.2417A>G (p.Gln806Arg)	KDM5A (Q806R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456643	NM_001042603.3(KDM5A):c.3779C>T (p.Ala1260Val)	KDM5A, LOC126861410 (A1260V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2430581	NM_001042603.3(KDM5A):c.1715C>G (p.Ser572Cys)	KDM5A (S572C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430578	NM_001042603.3(KDM5A):c.3086A>G (p.Lys1029Arg)	KDM5A (K1029R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418450	NM_001042603.3(KDM5A):c.3230G>A (p.Arg1077Gln)	KDM5A (R1077Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413044	NM_001042603.3(KDM5A):c.3768G>A (p.Trp1256Ter)	KDM5A, LOC126861410 (W1256*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2409310	NM_001042603.3(KDM5A):c.3254G>A (p.Ser1085Asn)	KDM5A (S1085N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399942	NM_001042603.3(KDM5A):c.720G>T (p.Gln240His)	KDM5A (Q240H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399556	NM_001042603.3(KDM5A):c.4346T>C (p.Met1449Thr)	KDM5A (M1449T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369859	NM_001042603.3(KDM5A):c.4115A>G (p.Asn1372Ser)	KDM5A (N1372S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355840	NM_001042603.3(KDM5A):c.3977G>A (p.Ser1326Asn)	KDM5A, LOC126861410 (S1326N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345380	NM_001042603.3(KDM5A):c.3347G>A (p.Gly1116Glu)	KDM5A (G1116E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334488	NM_001042603.3(KDM5A):c.3203A>C (p.His1068Pro)	KDM5A (H1068P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330730	NM_001042603.3(KDM5A):c.743T>G (p.Val248Gly)	KDM5A (V248G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319683	NM_001042603.3(KDM5A):c.2333A>C (p.Asn778Thr)	KDM5A (N778T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319527	NM_001042603.3(KDM5A):c.4298C>T (p.Pro1433Leu)	KDM5A (P1433L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315712	NM_001042603.3(KDM5A):c.962T>G (p.Phe321Cys)	KDM5A (F321C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307247	NM_001042603.3(KDM5A):c.4274T>C (p.Leu1425Ser)	KDM5A (L1425S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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