ClinVar for Gene (Select 3743) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2600054	NM_031886.3(KCNA7):c.1330C>T (p.Leu444Phe)	KCNA7 (L444F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2567251	NM_031886.3(KCNA7):c.985G>A (p.Ala329Thr)	KCNA7 (A329T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556868	NM_031886.3(KCNA7):c.382C>A (p.Gln128Lys)	KCNA7 (Q128K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537527	NM_031886.3(KCNA7):c.721G>T (p.Val241Leu)	KCNA7 (V241L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511540	NM_031886.3(KCNA7):c.1208G>A (p.Arg403Gln)	KCNA7 (R403Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509054	NM_031886.3(KCNA7):c.277G>A (p.Val93Met)	KCNA7 (V93M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487653	NM_031886.3(KCNA7):c.640A>T (p.Thr214Ser)	KCNA7 (T214S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467673	NM_031886.3(KCNA7):c.1207C>T (p.Arg403Trp)	KCNA7 (R403W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426330	NC_000019.9:g.(?_49472545)_(49714755_?)del	C19orf73, CGB1 +15 more	Deletion	Progressive familial heart block type IB	GUncertain significance
Select item 2406487	NM_031886.3(KCNA7):c.524C>G (p.Thr175Arg)	KCNA7 (T175R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400375	NM_031886.3(KCNA7):c.112C>A (p.Leu38Met)	KCNA7 (L38M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393019	NM_031886.3(KCNA7):c.721G>A (p.Val241Met)	KCNA7 (V241M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377280	NM_031886.3(KCNA7):c.83C>A (p.Ala28Glu)	KCNA7 (A28E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364464	NM_031886.3(KCNA7):c.860G>A (p.Arg287His)	KCNA7 (R287H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335992	NM_031886.3(KCNA7):c.79C>G (p.Arg27Gly)	KCNA7 (R27G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328364	NM_031886.3(KCNA7):c.497C>G (p.Pro166Arg)	KCNA7 (P166R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306590	NM_031886.3(KCNA7):c.319C>A (p.Arg107Ser)	KCNA7 (R107S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305987	NM_031886.3(KCNA7):c.397T>G (p.Phe133Val)	KCNA7 (F133V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299607	NM_031886.3(KCNA7):c.851G>A (p.Arg284His)	KCNA7 (R284H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297446	NM_031886.3(KCNA7):c.964G>T (p.Gly322Cys)	KCNA7 (G322C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273234	NM_031886.3(KCNA7):c.121G>T (p.Asp41Tyr)	KCNA7 (D41Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265490	NM_031886.3(KCNA7):c.122A>T (p.Asp41Val)	KCNA7 (D41V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237813	NM_031886.3(KCNA7):c.772G>T (p.Gly258Cys)	KCNA7 (G258C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226092	NM_031886.3(KCNA7):c.1009C>T (p.Arg337Trp)	KCNA7 (R337W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	PTOV1-AS2, SLC17A7 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	BAX, BCAT2 +58 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 37