KDM2A[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 58892	GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1	ACY3, AIP +129 more	Copy number loss	See cases	GPathogenic
Select item 59758	GRCh38/hg38 11q13.2(chr11:67016543-67256428)x3	KDM2A, LOC107984341 +27 more	Copy number gain	See cases	GPathogenic
Select item 2348671	NM_012308.3(KDM2A):c.190G>A (p.Val64Ile)	KDM2A (V64I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272899	NM_012308.3(KDM2A):c.199A>G (p.Ile67Val)	KDM2A (I67V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113716	NM_012308.3(KDM2A):c.490G>T (p.Asp164Tyr)	KDM2A (D164Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287877	NM_012308.3(KDM2A):c.525G>C (p.Arg175Ser)	KDM2A (R175S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 2372601	NM_012308.3(KDM2A):c.1040G>A (p.Arg347His)	KDM2A (R347H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1296953	NM_012308.3(KDM2A):c.1053T>C (p.Thr351=)	KDM2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3113708	NM_012308.3(KDM2A):c.1138C>G (p.Arg380Gly)	KDM2A (R380G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304204	NM_012308.3(KDM2A):c.1247G>T (p.Ser416Ile)	KDM2A (S416I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287876	NM_012308.3(KDM2A):c.1284C>G (p.Asp428Glu)	KDM2A (D428E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642010	NM_012308.3(KDM2A):c.1296C>A (p.Gly432=)	KDM2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2487402	NM_012308.3(KDM2A):c.1510C>G (p.Pro504Ala)	KDM2A (P504A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205294	NM_012308.3(KDM2A):c.1676C>T (p.Pro559Leu)	KDM2A (P120L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113709	NM_012308.3(KDM2A):c.1850C>T (p.Ser617Leu)	KDM2A (S617L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281950	NM_012308.3(KDM2A):c.1941G>C (p.Glu647Asp)	KDM2A (E647D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113710	NM_012308.3(KDM2A):c.2083G>C (p.Glu695Gln)	KDM2A (E256Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287878	NM_012308.3(KDM2A):c.2110C>G (p.Pro704Ala)	KDM2A (P265A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216858	NM_012308.3(KDM2A):c.2189T>G (p.Val730Gly)	KDM2A (V730G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248464	NM_012308.3(KDM2A):c.2298G>T (p.Gln766His)	KDM2A (Q766H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113711	NM_012308.3(KDM2A):c.2438C>T (p.Thr813Ile)	KDM2A (T374I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272123	NM_012308.3(KDM2A):c.2485C>G (p.Leu829Val)	KDM2A (L390V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272202	NM_012308.3(KDM2A):c.2528G>A (p.Arg843Gln)	KDM2A (R404Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592116	NM_012308.3(KDM2A):c.2539C>T (p.Arg847Cys)	KDM2A (R847C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113712	NM_012308.3(KDM2A):c.2599G>T (p.Asp867Tyr)	KDM2A (D428Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287875	NM_012308.3(KDM2A):c.2697G>T (p.Met899Ile)	KDM2A (M460I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402609	NM_012308.3(KDM2A):c.2707C>T (p.Arg903Cys)	KDM2A (R464C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340914	NM_012308.3(KDM2A):c.2752A>C (p.Lys918Gln)	KDM2A (K918Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615032	NM_012308.3(KDM2A):c.2836C>T (p.Leu946Phe)	KDM2A (L507F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366165	NM_012308.3(KDM2A):c.2917G>A (p.Val973Ile)	KDM2A (V973I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396855	NM_012308.3(KDM2A):c.3077C>T (p.Pro1026Leu)	KDM2A, LOC126861240 (P587L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113713	NM_012308.3(KDM2A):c.3316A>C (p.Lys1106Gln)	KDM2A, LOC126861240 (K1106Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113714	NM_012308.3(KDM2A):c.3332C>T (p.Thr1111Ile)	KDM2A, LOC126861240 (T1111I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113715	NM_012308.3(KDM2A):c.3361G>A (p.Val1121Ile)	KDM2A, LOC126861240 (V1121I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787378	NM_012308.3(KDM2A):c.3453C>T (p.Cys1151=)	KDM2A, LOC126861240	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527646	GRCh37/hg19 11q13.2(chr11:66673078-66942028)	C11orf86, KDM2A +3 more	Copy number gain	not specified	GUncertain significance
Select item 1339909	GRCh37/hg19 11q13.2(chr11:66760918-67015469)x3	KDM2A, RHOD +1 more	Copy number gain	not provided	Gnot provided
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815437	GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3	ALDH3B2, ACY3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 815436	GRCh37/hg19 11q13.2(chr11:66760918-67015469)x3	RHOD, SYT12 +1 more	Copy number gain	not provided	GUncertain significance
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 563841	GRCh37/hg19 11q13.2(chr11:66662614-66975223)x3	C11orf86, SYT12 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	ACTN3, ACY3 +57 more	Copy number gain	See cases	GUncertain significance
Select item 3359230	NM_012308.3(KDM2A):c.1772T>C (p.Met591Thr)	KDM2A (M152T +1 more)	Single nucleotide variant (missense variant +1 more)	KDM2A related condition	GUncertain significance

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Items: 54