ClinVar for Gene (Select 23081) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3348381	NM_015061.6(KDM4C):c.2886_2894del (p.Ile962_His964del)	KDM4C	Deletion (inframe_deletion +1 more)	KDM4C-related disorder	GUncertain significance
Select item 3287927	NM_015061.6(KDM4C):c.1975A>G (p.Ser659Gly)	KDM4C (S222G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287926	NM_015061.6(KDM4C):c.949A>T (p.Ile317Phe)	KDM4C (I136F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3287925	NM_015061.6(KDM4C):c.1370G>A (p.Ser457Asn)	KDM4C (S276N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287924	NM_015061.6(KDM4C):c.1342A>G (p.Ile448Val)	KDM4C (I267V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287923	NM_015061.6(KDM4C):c.1472C>G (p.Ser491Cys)	KDM4C (S513C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287922	NM_015061.6(KDM4C):c.2651C>T (p.Thr884Met)	KDM4C (T447M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287921	NM_015061.6(KDM4C):c.2372C>T (p.Pro791Leu)	KDM4C (P536L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287919	NM_015061.6(KDM4C):c.2062G>C (p.Glu688Gln)	KDM4C (E433Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287918	NM_015061.6(KDM4C):c.79C>T (p.Arg27Trp)	KDM4C (R49W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3287917	NM_015061.6(KDM4C):c.321A>G (p.Lys107=)	KDM4C	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3287916	NM_015061.6(KDM4C):c.1772C>T (p.Ala591Val)	KDM4C (A154V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 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 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 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 3113810	NM_015061.6(KDM4C):c.3164G>T (p.Arg1055Ile)	KDM4C (R1055I +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3113809	NM_015061.6(KDM4C):c.2501C>A (p.Ala834Asp)	KDM4C (A834D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113808	NM_015061.6(KDM4C):c.2446C>T (p.Arg816Trp)	KDM4C (R379W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113807	NM_015061.6(KDM4C):c.2363C>T (p.Thr788Ile)	KDM4C (T810I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113806	NM_015061.6(KDM4C):c.1681G>A (p.Ala561Thr)	KDM4C (A583T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3113805	NM_015061.6(KDM4C):c.1603C>A (p.His535Asn)	KDM4C (H98N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3113804	NM_015061.6(KDM4C):c.1508C>T (p.Ser503Phe)	KDM4C (S503F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113803	NM_015061.6(KDM4C):c.1432C>A (p.Pro478Thr)	KDM4C (P297T +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
Select item 3063123	GRCh37/hg19 9p24.3-24.1(chr9:203862-8548307)x1	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 3063089	GRCh37/hg19 9p24.3-23(chr9:203861-9128400)x1	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 3063080	GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1	AK3, BRD10 +47 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 2684572	GRCh37/hg19 9p24.1(chr9:6908200-7182783)x3	KDM4C	Copy number gain	not provided	GUncertain significance
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2671611	Single allele	AK3, BNC2 +49 more	Deletion	not provided	GPathogenic
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 2659062	NM_015061.6(KDM4C):c.231C>T (p.Val77=)	KDM4C	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
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 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 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 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 2591181	NM_015061.6(KDM4C):c.1885G>A (p.Ala629Thr)	KDM4C (A374T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 2535121	NM_015061.6(KDM4C):c.2990G>A (p.Arg997Gln)	KDM4C (R593Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529349	NM_015061.6(KDM4C):c.3040G>A (p.Asp1014Asn)	KDM4C (D1014N +4 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2494496	NM_015061.6(KDM4C):c.2536G>A (p.Val846Ile)	KDM4C (V591I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486167	NM_015061.6(KDM4C):c.2396G>T (p.Gly799Val)	KDM4C (G362V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485178	NM_015061.6(KDM4C):c.3161A>G (p.Lys1054Arg)	KDM4C (K617R +4 more)	Single nucleotide variant (3 prime UTR 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 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 2475821	NM_015061.6(KDM4C):c.3053G>T (p.Gly1018Val)	KDM4C (G1018V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472136	NM_015061.6(KDM4C):c.2845G>A (p.Asp949Asn)	KDM4C (D694N +4 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 2392436	NM_015061.6(KDM4C):c.2626G>A (p.Glu876Lys)	KDM4C (E621K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390802	NM_015061.6(KDM4C):c.2442A>C (p.Arg814Ser)	KDM4C (R377S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360006	NM_015061.6(KDM4C):c.1756C>G (p.Leu586Val)	KDM4C (L586V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2348443	NM_015061.6(KDM4C):c.2023G>C (p.Val675Leu)	KDM4C (V697L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345553	NM_015061.6(KDM4C):c.2005G>A (p.Glu669Lys)	KDM4C (E691K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338287	NM_015061.6(KDM4C):c.2606A>G (p.Asn869Ser)	KDM4C (N432S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328507	NM_015061.6(KDM4C):c.1739C>T (p.Ala580Val)	KDM4C (A143V +2 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 2321754	NM_015061.6(KDM4C):c.1974T>A (p.Asp658Glu)	KDM4C (D221E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317269	NM_015061.6(KDM4C):c.2620G>T (p.Ala874Ser)	KDM4C (A437S +4 more)	Single nucleotide variant (missense variant +1 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 2312894	NM_015061.6(KDM4C):c.1811A>G (p.Glu604Gly)	KDM4C (E167G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307310	NM_015061.6(KDM4C):c.2588G>A (p.Arg863Gln)	KDM4C (R426Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301935	NM_015061.6(KDM4C):c.2211C>G (p.Ile737Met)	KDM4C (I737M +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 2274504	NM_015061.6(KDM4C):c.1643C>G (p.Pro548Arg)	KDM4C (P548R +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 2251835	NM_015061.6(KDM4C):c.1658A>G (p.Asn553Ser)	KDM4C (N116S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2248401	NM_015061.6(KDM4C):c.2792G>T (p.Cys931Phe)	KDM4C (C527F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242826	NM_015061.6(KDM4C):c.2342C>A (p.Ala781Glu)	KDM4C (A526E +3 more)	Single nucleotide variant (missense variant +1 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 2229291	NM_015061.6(KDM4C):c.2488G>A (p.Gly830Ser)	KDM4C (G575S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219966	NM_015061.6(KDM4C):c.2858A>G (p.Tyr953Cys)	KDM4C (Y549C +4 more)	Single nucleotide variant (missense variant +1 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 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 2210896	NM_015061.6(KDM4C):c.1438A>G (p.Ile480Val)	KDM4C (I43V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809387	GRCh37/hg19 9p24.1(chr9:6701130-6778469)x1	KDM4C	Copy number loss	not provided	GUncertain significance
Select item 1808802	GRCh37/hg19 9p24.1(chr9:6731724-6858156)x1	KDM4C	Copy number loss	not provided	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)	Maffucci syndrome	GUncertain significance
Select item 1803798	NM_015061.6(KDM4C):c.2320G>A (p.Ala774Thr)	KDM4C (A337T +3 more)	Single nucleotide variant (missense variant +1 more)	Enchondromatosis	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 1711163	GRCh37/hg19 9p24.1-23(chr9:6825346-10816593)x1	DMAC1, KDM4C +1 more	Copy number loss	See cases	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1708182	GRCh37/hg19 9p24.3-22.3(chr9:203861-15048247)x1	AK3, BRD10 +44 more	Copy number loss	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1706515	GRCh37/hg19 9p24.3-23(chr9:203861-10283912)x1	AK3, BRD10 +37 more	Copy number loss	See cases	GPathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703682	GRCh37/hg19 9p24.3-24.1(chr9:203861-7959823)	AK3, BRD10 +36 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703681	GRCh37/hg19 9p24.1-22.1(chr9:4992582-19322101)	ADAMTSL1, BNC2 +38 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703680	GRCh37/hg19 9p24.3-23(chr9:203861-12570076)	IL33, RCL1 +37 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703678	GRCh37/hg19 9p24.3-23(chr9:203861-12127088)	AK3, BRD10 +37 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1684649	Single allele	LOC130001502, LOC130001503 +233 more	Deletion	Chromosome 9p deletion syndrome	GPathogenic
Select item 1527509	GRCh37/hg19 9p24.1-22.1(chr9:6788084-19213960)	ADAMTSL1, BNC2 +20 more	Copy number loss	not specified	GUncertain significance
Select item 1527495	GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)	ACER2, ACO1 +114 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic

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