KDM4A[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 732098	NM_014663.3(KDM4A):c.30C>T (p.Pro10=)	KDM4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3113786	NM_014663.3(KDM4A):c.44T>C (p.Met15Thr)	KDM4A (M15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775542	NM_014663.3(KDM4A):c.48C>A (p.Thr16=)	KDM4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2518877	NM_014663.3(KDM4A):c.122G>A (p.Arg41Gln)	KDM4A (R41Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789921	NM_014663.3(KDM4A):c.228G>T (p.Thr76=)	KDM4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2336103	NM_014663.3(KDM4A):c.266A>G (p.Lys89Arg)	KDM4A (K89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113784	NM_014663.3(KDM4A):c.355C>T (p.Arg119Trp)	KDM4A (R119W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113785	NM_014663.3(KDM4A):c.381C>A (p.Phe127Leu)	KDM4A (F127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524221	NM_014663.3(KDM4A):c.526C>G (p.Leu176Val)	KDM4A (L176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284707	NM_014663.3(KDM4A):c.628T>A (p.Ser210Thr)	KDM4A (S210T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604321	NM_014663.3(KDM4A):c.880C>T (p.Arg294Cys)	KDM4A, LOC126805723 (R294C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554729	NM_014663.3(KDM4A):c.902A>G (p.Lys301Arg)	KDM4A, LOC126805723 (K301R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287902	NM_014663.3(KDM4A):c.910G>C (p.Val304Leu)	KDM4A, LOC126805723 (V304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473971	NM_014663.3(KDM4A):c.1022T>C (p.Ile341Thr)	KDM4A (I341T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548914	NM_014663.3(KDM4A):c.1028A>G (p.His343Arg)	KDM4A (H343R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541206	NM_014663.3(KDM4A):c.1094A>G (p.Asn365Ser)	KDM4A (N365S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782374	NM_014663.3(KDM4A):c.1120A>G (p.Met374Val)	KDM4A (M374V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2222494	NM_014663.3(KDM4A):c.1178G>A (p.Arg393Gln)	KDM4A (R393Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113776	NM_014663.3(KDM4A):c.1217C>T (p.Pro406Leu)	KDM4A (P406L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725132	NM_014663.3(KDM4A):c.1293G>A (p.Pro431=)	KDM4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2593018	NM_014663.3(KDM4A):c.1333C>T (p.Arg445Trp)	KDM4A (R445W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594664	NM_014663.3(KDM4A):c.1334G>A (p.Arg445Gln)	KDM4A (R445Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782375	NM_014663.3(KDM4A):c.1479G>A (p.Ala493=)	KDM4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2589391	NM_014663.3(KDM4A):c.1490G>A (p.Gly497Glu)	KDM4A (G497E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244383	NM_014663.3(KDM4A):c.1492C>T (p.Arg498Cys)	KDM4A (R498C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113778	NM_014663.3(KDM4A):c.1552C>T (p.Arg518Trp)	KDM4A (R518W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529020	NM_014663.3(KDM4A):c.1567T>G (p.Ser523Ala)	KDM4A (S523A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333512	NM_014663.3(KDM4A):c.1585G>A (p.Glu529Lys)	KDM4A (E529K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383097	NM_014663.3(KDM4A):c.1594T>C (p.Ser532Pro)	KDM4A (S532P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113779	NM_014663.3(KDM4A):c.1616C>T (p.Thr539Met)	KDM4A (T539M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622744	NM_014663.3(KDM4A):c.1729G>A (p.Ala577Thr)	KDM4A (A577T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454996	NM_014663.3(KDM4A):c.1772A>G (p.Lys591Arg)	KDM4A (K591R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113780	NM_014663.3(KDM4A):c.1786C>T (p.Arg596Cys)	KDM4A (R596C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481702	NM_014663.3(KDM4A):c.2050G>A (p.Gly684Ser)	KDM4A (G684S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223619	NM_014663.3(KDM4A):c.2153C>T (p.Thr718Met)	KDM4A (T718M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305035	NM_014663.3(KDM4A):c.2162A>G (p.Asn721Ser)	KDM4A (N721S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287904	NM_014663.3(KDM4A):c.2192G>A (p.Gly731Asp)	KDM4A (G731D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287905	NM_014663.3(KDM4A):c.2206G>A (p.Val736Ile)	KDM4A (V736I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287903	NM_014663.3(KDM4A):c.2227G>A (p.Val743Ile)	KDM4A (V743I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305264	NM_014663.3(KDM4A):c.2261C>T (p.Pro754Leu)	KDM4A (P754L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205248	NM_014663.3(KDM4A):c.2268G>T (p.Lys756Asn)	KDM4A (K756N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113781	NM_014663.3(KDM4A):c.2300C>T (p.Ser767Leu)	KDM4A (S767L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326209	NM_014663.3(KDM4A):c.2534T>C (p.Val845Ala)	KDM4A (V845A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483959	NM_014663.3(KDM4A):c.2675C>T (p.Ala892Val)	KDM4A (A892V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246380	NM_014663.3(KDM4A):c.2698A>T (p.Thr900Ser)	KDM4A (T900S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557871	NM_014663.3(KDM4A):c.2701G>A (p.Ala901Thr)	KDM4A (A901T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113782	NM_014663.3(KDM4A):c.2734G>A (p.Gly912Arg)	KDM4A (G912R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288875	NM_014663.3(KDM4A):c.2762G>T (p.Arg921Met)	KDM4A (R921M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302314	NM_014663.3(KDM4A):c.2770A>G (p.Thr924Ala)	KDM4A (T924A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113783	NM_014663.3(KDM4A):c.2892A>T (p.Gln964His)	KDM4A, KDM4A-AS1 (Q964H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741942	NM_014663.3(KDM4A):c.2922A>G (p.Gly974=)	KDM4A, KDM4A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 775543	NM_014663.3(KDM4A):c.2961+10G>A	KDM4A, KDM4A-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2622404	NM_014663.3(KDM4A):c.3100G>C (p.Glu1034Gln)	KDM4A, KDM4A-AS1 (E1034Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808593	GRCh37/hg19 1p34.1(chr1:44115963-44434808)x3	ARTN, IPO13 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 689310	GRCh37/hg19 1p34.2-34.1(chr1:43336799-44713202)x1	ARTN, ATP6V0B +24 more	Copy number loss	not provided	GPathogenic
Select item 686767	GRCh37/hg19 1p34.2-34.1(chr1:43787578-44221212)x3	CDC20, ELOVL1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395212	GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1	ARTN, ATP6V0B +36 more	Copy number loss	See cases	GPathogenic

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Items: 65