ClinVar for Gene (Select 3747) - ClinVar

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Links from Gene

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063254	GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1	ACSS3, ATXN7L3B +23 more	Copy number loss	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 3061800	NM_139137.4(KCNC2):c.487G>A (p.Glu163Lys)	KCNC2 (E163K)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 103	GLikely pathogenic
Select item 3025814	NM_139137.4(KCNC2):c.516C>G (p.Pro172=)	KCNC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025137	NM_139137.4(KCNC2):c.224G>T (p.Gly75Val)	KCNC2 (G75V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2662494	NM_139137.4(KCNC2):c.1418T>C (p.Val473Ala)	KCNC2 (V473A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2662299	NM_139137.4(KCNC2):c.1424A>C (p.Asn475Thr)	KCNC2 (N475T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2643664	GRCh37/hg19 12q21.1(chr12:74931615-75445097)x1	ATXN7L3B, KCNC2	Copy number loss	not provided	GUncertain significance
Select item 2643182	NM_139137.4(KCNC2):c.99C>T (p.Arg33=)	KCNC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2643181	NM_139137.4(KCNC2):c.709T>C (p.Phe237Leu)	KCNC2 (F237L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2632556	NM_139137.4(KCNC2):c.1292C>T (p.Ala431Val)	KCNC2 (A431V)	Single nucleotide variant (missense variant +1 more)	KCNC2-related condition	GUncertain significance
Select item 2614136	NM_139137.4(KCNC2):c.1526G>T (p.Cys509Phe)	KCNC2 (C509F)	Single nucleotide variant (missense variant +1 more)	KCNC2-related condition +1 more	GUncertain significance
Select item 2606784	NM_139137.4(KCNC2):c.24G>C (p.Glu8Asp)	KCNC2 (E8D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601829	NM_139137.4(KCNC2):c.524T>C (p.Ile175Thr)	KCNC2 (I175T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598609	NM_139137.4(KCNC2):c.1769G>C (p.Gly590Ala)	KCNC2 (G573A +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2575765	NM_139137.4(KCNC2):c.439G>A (p.Asp147Asn)	KCNC2 (D147N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2546425	NM_139137.4(KCNC2):c.1598T>A (p.Leu533Gln)	KCNC2 (L533Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535950	NM_139137.4(KCNC2):c.170C>T (p.Ser57Leu)	KCNC2 (S57L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530064	NM_139137.4(KCNC2):c.572G>A (p.Gly191Asp)	KCNC2 (G191D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514564	NM_139137.4(KCNC2):c.265G>A (p.Gly89Ser)	KCNC2 (G89S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513659	NM_139137.4(KCNC2):c.*764C>T	KCNC2 (T605M +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2505859	NM_139137.4(KCNC2):c.439G>C (p.Asp147His)	KCNC2 (D147H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2504975	NM_139137.4(KCNC2):c.322C>T (p.Pro108Ser)	KCNC2 (P108S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2504360	NM_139137.4(KCNC2):c.299G>T (p.Arg100Leu)	KCNC2 (R100L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2499648	GRCh38/hg38 12q21.1-21.2(chr12:75027258-75716971)	CAPS2, GLIPR1 +12 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2481785	NM_139137.4(KCNC2):c.1685G>T (p.Arg562Leu)	KCNC2 (R545L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2446479	NM_139137.4(KCNC2):c.239G>T (p.Gly80Val)	KCNC2 (G80V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2446075	NM_139137.4(KCNC2):c.361G>T (p.Gly121Cys)	KCNC2 (G121C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2442599	NM_139137.4(KCNC2):c.637C>T (p.Pro213Ser)	KCNC2 (P213S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431912	NM_139137.4(KCNC2):c.1408C>A (p.Pro470Thr)	KCNC2 (P470T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 103	GUncertain significance
Select item 2413122	NM_139137.4(KCNC2):c.1163T>C (p.Phe388Ser)	KCNC2 (F388S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 103	GLikely pathogenic
Select item 2384282	NM_139137.4(KCNC2):c.586G>A (p.Ala196Thr)	KCNC2 (A196T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344311	NM_139137.4(KCNC2):c.283C>A (p.His95Asn)	KCNC2 (H95N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293379	NM_139137.4(KCNC2):c.247G>A (p.Gly83Ser)	KCNC2 (G83S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289982	NM_139137.4(KCNC2):c.1592G>A (p.Arg531Gln)	KCNC2 (R531Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286291	NM_139137.4(KCNC2):c.1635T>G (p.Ser545Arg)	KCNC2 (V580G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270819	NM_139137.4(KCNC2):c.*731A>T	KCNC2 (D539V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2269911	NM_139137.4(KCNC2):c.1635T>A (p.Ser545Arg)	KCNC2 (S545R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268535	NM_139137.4(KCNC2):c.722T>C (p.Val241Ala)	KCNC2 (V241A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223572	NM_139137.4(KCNC2):c.779A>G (p.Lys260Arg)	KCNC2 (K260R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218308	NM_139137.4(KCNC2):c.1567G>C (p.Asp523His)	KCNC2 (D523H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879241	NM_139137.4(KCNC2):c.1904del (p.Pro635fs)	KCNC2 (P580fs +1 more)	Deletion (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1808753	GRCh37/hg19 12q21.1-21.2(chr12:75417920-76110508)x3	CAPS2, GLIPR1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1708501	NM_139137.4(KCNC2):c.1403C>T (p.Pro468Leu)	KCNC2 (P468L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704174	NM_139137.4(KCNC2):c.1001G>A (p.Gly334Glu)	KCNC2 (G334E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700164	NM_139137.4(KCNC2):c.1418T>A (p.Val473Asp)	KCNC2 (V473D)	Single nucleotide variant (missense variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1695909	NM_139137.4(KCNC2):c.1213A>G (p.Arg405Gly)	KCNC2 (R405G)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 1693475	NM_139137.4(KCNC2):c.1309A>G (p.Thr437Ala)	KCNC2	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 103	GPathogenic
Select item 1693473	NM_139137.4(KCNC2):c.404A>G (p.Glu135Gly)	KCNC2	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 103	GPathogenic
Select item 1693472	NM_139137.4(KCNC2):c.375C>G (p.Cys125Trp)	KCNC2	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 103	GPathogenic
Select item 1693471	NM_139137.4(KCNC2):c.499G>T (p.Asp167Tyr)	KCNC2	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 103	GPathogenic
Select item 1693470	NM_139137.4(KCNC2):c.1411G>C (p.Val471Leu)	KCNC2 (V471L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 103	GPathogenic
Select item 1527713	GRCh37/hg19 12q21.1-21.2(chr12:75412811-76110508)	CAPS2, GLIPR1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527712	GRCh37/hg19 12q21.1(chr12:75068633-75504887)	KCNC2	Copy number gain	not specified	GUncertain significance
Select item 1411978	NM_139137.4(KCNC2):c.1052G>A (p.Arg351Lys)	KCNC2 (R351K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341251	GRCh37/hg19 12q21.1-21.2(chr12:75412811-76110508)x3	CAPS2, GLIPR1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1340527	GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1	TBC1D15, THAP2 +25 more	Copy number loss	not provided	GPathogenic
Select item 1172543	NM_139137.4(KCNC2):c.1405G>T (p.Val469Leu)	KCNC2 (V469L)	Single nucleotide variant (missense variant)	KCNC2-related disorder	GUncertain significance
Select item 916302	NM_139137.4(KCNC2):c.1145T>G (p.Phe382Cys)	KCNC2 (F382C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872705	NM_139137.4(KCNC2):c.1408C>T (p.Pro470Ser)	KCNC2 (P470S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 774899	NM_139137.4(KCNC2):c.1146T>C (p.Phe382=)	KCNC2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 563957	GRCh37/hg19 12q21.1-21.2(chr12:75417919-76110508)x3	GLIPR1, GLIPR1L1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 563892	GRCh37/hg19 12q21.1(chr12:75593940-75654740)x1	KCNC2	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	LRRIQ1, LUM +287 more	Copy number loss	See cases	GPathogenic
Select item 153539	GRCh38/hg38 12q21.1-21.2(chr12:75019031-75720674)x3	CAPS2, GLIPR1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +125 more	Copy number loss	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	ATXN7L3B, BEST3 +141 more	Copy number loss	See cases	GLikely pathogenic
Select item 144519	GRCh38/hg38 12q21.1-21.2(chr12:75021678-75683757)x3	CAPS2, GLIPR1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 78