6238[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 more	Copy number loss	See cases	GPathogenic
Select item 145985	GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1	AASS, ANKRD7 +253 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 1277548	NM_012281.3(KCND2):c.-1205C>T	KCND2, LOC129999192	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1283256	NM_012281.3(KCND2):c.-1197A>C	KCND2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 583682	NC_000007.13:g.(?_119914667)_(119915821_?)dup	KCND2	Duplication	Early myoclonic encephalopathy	GUncertain significance
Select item 1715039	NM_012281.3(KCND2):c.4G>T (p.Ala2Ser)	KCND2 (A2S)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 2058949	NM_012281.3(KCND2):c.12G>T (p.Gly4=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 2285567	NM_012281.3(KCND2):c.13G>A (p.Val5Met)	KCND2 (V5M)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy +1 more	GUncertain significance
Select item 2878487	NM_012281.3(KCND2):c.14T>G (p.Val5Gly)	KCND2 (V5G)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 2704590	NM_012281.3(KCND2):c.16G>A (p.Ala6Thr)	KCND2 (A6T)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 1520541	NM_012281.3(KCND2):c.17C>A (p.Ala6Glu)	KCND2 (A6E)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 1414320	NM_012281.3(KCND2):c.17C>G (p.Ala6Gly)	KCND2 (A6G)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 1440476	NM_012281.3(KCND2):c.19G>A (p.Ala7Thr)	KCND2 (A7T)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 1905529	NM_012281.3(KCND2):c.20C>A (p.Ala7Glu)	KCND2 (A7E)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 751991	NM_012281.3(KCND2):c.21G>C (p.Ala7=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 1659959	NM_012281.3(KCND2):c.27G>C (p.Leu9=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 1598037	NM_012281.3(KCND2):c.27G>T (p.Leu9=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 569893	NM_012281.3(KCND2):c.31T>C (p.Phe11Leu)	KCND2 (F11L)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GLikely benign
Select item 947786	NM_012281.3(KCND2):c.33T>G (p.Phe11Leu)	KCND2 (F11L)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GLikely benign
Select item 2728645	NM_012281.3(KCND2):c.39G>A (p.Arg13=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 460202	NM_012281.3(KCND2):c.42A>G (p.Ala14=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 1137688	NM_012281.3(KCND2):c.48T>C (p.Ala16=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 792530	NM_012281.3(KCND2):c.51C>T (p.Ile17=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 1704709	NM_012281.3(KCND2):c.52G>C (p.Gly18Arg)	KCND2 (G18R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 954629	NM_012281.3(KCND2):c.61C>G (p.Pro21Ala)	KCND2 (P21A)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 648141	NM_012281.3(KCND2):c.64G>C (p.Val22Leu)	KCND2 (V22L)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy +1 more	GUncertain significance
Select item 3002394	NM_012281.3(KCND2):c.69C>G (p.Ala23=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 2776469	NM_012281.3(KCND2):c.69C>T (p.Ala23=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 1008472	NM_012281.3(KCND2):c.76C>T (p.Pro26Ser)	KCND2 (P26S)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 2770954	NM_012281.3(KCND2):c.83C>T (p.Pro28Leu)	KCND2 (P28L)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 2011151	NM_012281.3(KCND2):c.95G>A (p.Arg32Lys)	KCND2 (R32K)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 2838032	NM_012281.3(KCND2):c.104G>A (p.Arg35Lys)	KCND2 (R35K)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 2814580	NM_012281.3(KCND2):c.105G>A (p.Arg35=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 759128	NM_012281.3(KCND2):c.108A>G (p.Lys36=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 947519	NM_012281.3(KCND2):c.115C>G (p.Gln39Glu)	KCND2 (Q39E)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 1578580	NM_012281.3(KCND2):c.122C>T (p.Ala41Val)	KCND2 (A41V)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GLikely benign
Select item 1025284	NM_012281.3(KCND2):c.130G>A (p.Val44Met)	KCND2 (V44M)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 2050770	NM_012281.3(KCND2):c.149C>T (p.Thr50Ile)	KCND2 (T50I)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 1018504	NM_012281.3(KCND2):c.151C>T (p.Arg51Cys)	KCND2 (R51C)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 1505231	NM_012281.3(KCND2):c.159G>C (p.Gln53His)	KCND2 (Q53H)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 2909341	NM_012281.3(KCND2):c.169G>A (p.Asp57Asn)	KCND2 (D57N)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 2738253	NM_012281.3(KCND2):c.174C>G (p.Thr58=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 1969944	NM_012281.3(KCND2):c.174C>T (p.Thr58=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 1038912	NM_012281.3(KCND2):c.188C>T (p.Pro63Leu)	KCND2 (P63L)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 795291	NM_012281.3(KCND2):c.195T>A (p.Thr65=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 1485879	NM_012281.3(KCND2):c.204C>T (p.Gly68=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 2812610	NM_012281.3(KCND2):c.213G>A (p.Glu71=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 2142080	NM_012281.3(KCND2):c.215G>A (p.Arg72Lys)	KCND2 (R72K)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 460201	NM_012281.3(KCND2):c.216G>A (p.Arg72=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy +1 more	GLikely benign
Select item 2092141	NM_012281.3(KCND2):c.229C>T (p.His77Tyr)	KCND2 (H77Y)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 1635449	NM_012281.3(KCND2):c.234A>C (p.Pro78=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 2420078	NM_012281.3(KCND2):c.236A>C (p.Glu79Ala)	KCND2 (E79A)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 2114415	NM_012281.3(KCND2):c.244C>T (p.Gln82Ter)	KCND2 (Q82*)	Single nucleotide variant (nonsense)	Early myoclonic encephalopathy	GUncertain significance
Select item 1099714	NM_012281.3(KCND2):c.249T>C (p.Tyr83=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 2977203	NM_012281.3(KCND2):c.259C>T (p.Arg87Cys)	KCND2 (R87C)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 2730624	NM_012281.3(KCND2):c.268G>C (p.Asp90His)	KCND2 (D90H)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 1416842	NM_012281.3(KCND2):c.271A>G (p.Ile91Val)	KCND2 (I91V)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 1557554	NM_012281.3(KCND2):c.273C>T (p.Ile91=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 1439229	NM_012281.3(KCND2):c.278G>A (p.Arg93His)	KCND2 (R93H)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 2986152	NM_012281.3(KCND2):c.279C>T (p.Arg93=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 639013	NM_012281.3(KCND2):c.296A>G (p.Tyr99Cys)	KCND2 (Y99C)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 662969	NM_012281.3(KCND2):c.299G>T (p.Arg100Leu)	KCND2 (R100L)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 1376124	NM_012281.3(KCND2):c.302C>A (p.Thr101Asn)	KCND2 (T101N)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 752634	NM_012281.3(KCND2):c.318T>C (p.Tyr106=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 1532383	NM_012281.3(KCND2):c.321T>C (p.Pro107=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 654476	NM_012281.3(KCND2):c.322C>T (p.Arg108Cys)	KCND2 (R108C)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 1036551	NM_012281.3(KCND2):c.323G>A (p.Arg108His)	KCND2 (R108H)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 1063447	NM_012281.3(KCND2):c.325C>A (p.His109Asn)	KCND2 (H109N)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 712471	NM_012281.3(KCND2):c.330G>A (p.Glu110=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 1563717	NM_012281.3(KCND2):c.336C>A (p.Ile112=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 2122613	NM_012281.3(KCND2):c.338C>G (p.Ser113Cys)	KCND2 (S113C)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 1800663	NM_012281.3(KCND2):c.343T>G (p.Tyr115Asp)	KCND2 (Y115D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1043092	NM_012281.3(KCND2):c.359C>A (p.Ala120Asp)	KCND2 (A120D)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 2901387	NM_012281.3(KCND2):c.361_362delinsGC (p.Phe121Ala)	KCND2 (F121A)	Indel (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 1576840	NM_012281.3(KCND2):c.366T>C (p.Phe122=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 1649179	NM_012281.3(KCND2):c.384C>A (p.Ile128=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 645514	NM_012281.3(KCND2):c.385A>G (p.Ile129Val)	KCND2 (I129V)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 2807248	NM_012281.3(KCND2):c.388G>C (p.Gly130Arg)	KCND2 (G130R)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 1810701	NM_012281.3(KCND2):c.393C>G (p.Asp131Glu)	KCND2 (D131E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 764975	NM_012281.3(KCND2):c.402T>C (p.Tyr134=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 2861855	NM_012281.3(KCND2):c.403G>T (p.Glu135Ter)	KCND2 (E135*)	Single nucleotide variant (nonsense)	Early myoclonic encephalopathy	GUncertain significance
Select item 1149424	NM_012281.3(KCND2):c.405G>A (p.Glu135=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 2818337	NM_012281.3(KCND2):c.406G>A (p.Glu136Lys)	KCND2 (E136K)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 460203	NM_012281.3(KCND2):c.432C>T (p.Asn144=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 3016539	NM_012281.3(KCND2):c.433G>A (p.Ala145Thr)	KCND2 (A145T)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 2867993	NM_012281.3(KCND2):c.438G>A (p.Glu146=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 2196169	NM_012281.3(KCND2):c.440G>A (p.Arg147His)	KCND2 (R147H)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 2906550	NM_012281.3(KCND2):c.450C>A (p.Asp150Glu)	KCND2 (D150E)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 1913839	NM_012281.3(KCND2):c.451G>A (p.Asp151Asn)	KCND2 (D151N)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 1435002	NM_012281.3(KCND2):c.455C>T (p.Ala152Val)	KCND2 (A152V)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 460204	NM_012281.3(KCND2):c.456G>A (p.Ala152=)	KCND2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2910323	NM_012281.3(KCND2):c.458A>G (p.Asp153Gly)	KCND2 (D153G)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GUncertain significance
Select item 2421203	NM_012281.3(KCND2):c.458A>T (p.Asp153Val)	KCND2 (D153V)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy +1 more	GUncertain significance
Select item 1574130	NM_012281.3(KCND2):c.468C>T (p.Thr156=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy	GLikely benign
Select item 771817	NM_012281.3(KCND2):c.468C>G (p.Thr156=)	KCND2	Single nucleotide variant (synonymous variant)	Early myoclonic encephalopathy +1 more	GBenign/Likely benign

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