KDM4C[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1005 more	Copy number gain	See cases	GPathogenic
Select item 60415	GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1	AK3, BRD10 +270 more	Copy number loss	See cases	GPathogenic
Select item 152906	GRCh38/hg38 9p24.3-24.1(chr9:185579-7635806)x1	AK3, BRD10 +217 more	Copy number loss	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC132089671, LOC132089672 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	HRCT1, IFNA1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 60416	GRCh38/hg38 9p24.3-23(chr9:195399-11081440)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	ACER2, ACO1 +882 more	Copy number gain	See cases	GPathogenic
Select item 153821	GRCh38/hg38 9p24.3-24.1(chr9:203861-8172957)x1	AK3, BRD10 +223 more	Copy number loss	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LINC03026, LINC03041 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	ACER2, ADAMTSL1 +484 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 1684649	Single allele	LOC130001549, LOC130001550 +233 more	Deletion	Chromosome 9p deletion syndrome	GPathogenic
Select item 154897	GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1	AK3, BRD10 +271 more	Copy number loss	See cases	GPathogenic
Select item 150751	GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1	DMAC1, ERMP1 +228 more	Copy number loss	See cases	GPathogenic
Select item 144686	GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1	AK3, BRD10 +247 more	Copy number loss	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	ACER2, ADAMTSL1 +458 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001672, LOC130001673 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	DMAC1, DMRT1 +898 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	LOC126860601, LOC126860602 +581 more	Copy number gain	See cases	GPathogenic
Select item 149060	GRCh38/hg38 9p24.3-23(chr9:204104-10023901)x1	AK3, BRD10 +230 more	Copy number loss	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	ACER2, ACO1 +979 more	Copy number gain	See cases	GPathogenic
Select item 148677	GRCh38/hg38 9p24.3-24.1(chr9:204104-7133443)x1	AK3, BRD10 +215 more	Copy number loss	See cases	GPathogenic
Select item 148598	GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1	LOC130001510, LOC130001511 +256 more	Copy number loss	See cases	GPathogenic
Select item 148381	GRCh38/hg38 9p24.3-24.1(chr9:204104-8266492)x1	AK3, BRD10 +224 more	Copy number loss	See cases	GPathogenic
Select item 148307	GRCh38/hg38 9p24.3-23(chr9:204104-11610300)x3	AK3, BRD10 +233 more	Copy number gain	See cases	GPathogenic
Select item 146684	GRCh38/hg38 9p24.3-23(chr9:204104-11298187)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 146394	GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1	ADAMTSL1, AK3 +303 more	Copy number loss	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LINC03041, LINC03106 +898 more	Copy number gain	See cases	GPathogenic
Select item 147839	GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 146719	GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1	AK3, BNC2 +290 more	Copy number loss	See cases	GPathogenic
Select item 146254	GRCh38/hg38 9p24.3-23(chr9:204193-10852686)x1	AK3, BRD10 +232 more	Copy number loss	See cases	GPathogenic
Select item 146231	GRCh38/hg38 9p24.3-24.1(chr9:204193-6968724)x1	AK3, BRD10 +215 more	Copy number loss	See cases	GPathogenic
Select item 144441	GRCh38/hg38 9p24.3-23(chr9:204193-11277770)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 144391	GRCh38/hg38 9p24.3-23(chr9:204193-10473327)x1	ERMP1, GLDC +230 more	Copy number loss	See cases	GPathogenic
Select item 144343	GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1	ADAMTSL1, AK3 +297 more	Copy number loss	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144246	GRCh38/hg38 9p24.3-23(chr9:204193-10164955)x1	AK3, BRD10 +230 more	Copy number loss	See cases	GPathogenic
Select item 60431	GRCh38/hg38 9p24.3-23(chr9:204193-10340779)x1	AK3, BRD10 +230 more	Copy number loss	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +538 more	Copy number gain	See cases	GPathogenic
Select item 59836	GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3	LOC124210616, LOC124225047 +410 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC126860576, LOC126860577 +897 more	Copy number gain	See cases	GPathogenic
Select item 57180	GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1	AK3, BRD10 +255 more	Copy number loss	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001469, LOC130001470 +898 more	Copy number gain	See cases	GPathogenic
Select item 152907	GRCh38/hg38 9p24.3-23(chr9:211086-11457340)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 151916	GRCh38/hg38 9p24.3-24.1(chr9:211086-7444397)x1	LOC126860572, LOC126860573 +217 more	Copy number loss	See cases	GPathogenic
Select item 60441	GRCh38/hg38 9p24.3-23(chr9:211086-11867480)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 59060	GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1	AK3, BRD10 +252 more	Copy number loss	See cases	GPathogenic
Select item 147703	GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1	LOC126860553, LOC126860554 +280 more	Copy number loss	See cases	GPathogenic
Select item 154621	GRCh38/hg38 9p24.3-24.1(chr9:220253-7733826)x1	LOC130001440, LOC130001441 +213 more	Copy number loss	See cases	GPathogenic
Select item 146356	GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1	LOC130001466, LOC130001467 +295 more	Copy number loss	See cases	GPathogenic
Select item 146111	GRCh38/hg38 9p24.3-24.1(chr9:220253-8866675)x1	AK3, BRD10 +222 more	Copy number loss	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59065	GRCh38/hg38 9p24.3-24.1(chr9:220253-6968724)x1	LOC130001493, LOC130001494 +210 more	Copy number loss	See cases	GPathogenic
Select item 59064	GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1	ADAMTSL1, AK3 +292 more	Copy number loss	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	ACER2, ADAMTSL1 +461 more	Copy number gain	See cases	GPathogenic
Select item 152943	GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1	AK3, BRD10 +273 more	Copy number loss	See cases	GPathogenic
Select item 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	ACER2, ADAMTSL1 +412 more	Copy number gain	See cases	GPathogenic
Select item 57027	GRCh38/hg38 9p24.3-23(chr9:1592306-12387899)x3	AK3, BRD10 +204 more	Copy number gain	See cases	GPathogenic
Select item 147561	GRCh38/hg38 9p24.2-23(chr9:3591159-9361786)x3	AK3, BRD10 +153 more	Copy number gain	See cases	GPathogenic
Select item 147623	GRCh38/hg38 9p24.2-24.1(chr9:4152060-8518353)x1	AK3, BRD10 +144 more	Copy number loss	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	ACER2, ADAMTSL1 +355 more	Copy number gain	See cases	GPathogenic
Select item 146175	GRCh38/hg38 9p24.1(chr9:6558442-6838207)x3	GLDC, KDM4C +21 more	Copy number gain	See cases	GBenign
Select item 583506	NC_000009.11:g.(?_6620184)_(6720997_?)dup	LINC02851, LOC111413010 +10 more	Duplication	Non-ketotic hyperglycinemia	GUncertain significance
Select item 151923	GRCh38/hg38 9p24.1(chr9:6672380-6906978)x3	KDM4C, LINC02851 +12 more	Copy number gain	See cases	GBenign
Select item 2630695	NM_001146696.2(KDM4C):c.-1G>C	KDM4C	Single nucleotide variant (5 prime UTR variant)	KDM4C-related disorder	GUncertain significance
Select item 1803797	NM_001146696.2(KDM4C):c.11A>G (p.Tyr4Cys)	KDM4C (Y4C)	Single nucleotide variant (missense variant)	Enchondromatosis	GUncertain significance
Select item 2615873	NM_015061.6(KDM4C):c.68T>C (p.Met23Thr)	KDM4C (M23T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2217614	NM_015061.6(KDM4C):c.127C>T (p.Arg43Cys)	KDM4C (R43C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2659062	NM_015061.6(KDM4C):c.231C>T (p.Val77=)	KDM4C	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 3113811	NM_015061.6(KDM4C):c.375G>T (p.Lys125Asn)	KDM4C (K147N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2219837	NM_015061.6(KDM4C):c.397A>G (p.Ile133Val)	KDM4C (I133V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2327547	NM_015061.6(KDM4C):c.437G>T (p.Gly146Val)	KDM4C (G146V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 714419	NM_015061.6(KDM4C):c.447A>G (p.Glu149=)	KDM4C	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3113812	NM_015061.6(KDM4C):c.508A>G (p.Ile170Val)	KDM4C (I170V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2659063	NM_015061.6(KDM4C):c.579C>T (p.Asp193=)	KDM4C	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 714420	NM_015061.6(KDM4C):c.618G>C (p.Glu206Asp)	KDM4C (E206D +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3113813	NM_015061.6(KDM4C):c.676C>G (p.Gln226Glu)	KDM4C (Q45E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2315929	NM_015061.6(KDM4C):c.698C>G (p.Ser233Cys)	KDM4C (S255C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2553536	NM_015061.6(KDM4C):c.749C>T (p.Ser250Leu)	KDM4C (S250L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 716096	NM_015061.6(KDM4C):c.754T>C (p.Leu252=)	KDM4C	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3113814	NM_015061.6(KDM4C):c.955A>G (p.Met319Val)	KDM4C (M138V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2476052	NM_015061.6(KDM4C):c.982C>T (p.Pro328Ser)	KDM4C (P147S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2484899	NM_015061.6(KDM4C):c.1018A>G (p.Ile340Val)	KDM4C (I159V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2263809	NM_015061.6(KDM4C):c.1067T>A (p.Val356Glu)	KDM4C (V175E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1803799	NM_015061.6(KDM4C):c.1112G>A (p.Arg371Gln)	KDM4C (R190Q +2 more)	Single nucleotide variant (missense variant +2 more)	KDM4C-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2563989	NM_015061.6(KDM4C):c.1139C>G (p.Ser380Cys)	KDM4C (S380C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2603328	NM_015061.6(KDM4C):c.1225G>A (p.Asp409Asn)	KDM4C (D228N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2609449	NM_015061.6(KDM4C):c.1253C>T (p.Ala418Val)	KDM4C (A418V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2236671	NM_015061.6(KDM4C):c.1325A>G (p.Gln442Arg)	KDM4C (Q5R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283343	NM_015061.6(KDM4C):c.1379T>C (p.Val460Ala)	KDM4C (V23A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401637	NM_015061.6(KDM4C):c.1390A>G (p.Ile464Val)	KDM4C (I464V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113802	NM_015061.6(KDM4C):c.1405G>A (p.Asp469Asn)	KDM4C (D32N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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