10142[geneid] - 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 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 152396	GRCh38/hg38 7q21.2(chr7:91929250-92018542)x3	AKAP9, LOC129998788 +1 more	Copy number gain	See cases	GUncertain significance
Select item 1264811	NC_000007.14:g.91940581dup	AKAP9	Duplication	not provided	GBenign
Select item 683171	NM_005751.4(AKAP9):c.-285C>T	AKAP9	Single nucleotide variant	not provided	GBenign
Select item 1278318	NM_005751.5(AKAP9):c.-230G>T	AKAP9	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 360806	NM_005751.5(AKAP9):c.-214CGG[6]	AKAP9	Microsatellite (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 360807	NM_005751.5(AKAP9):c.-211C>A	AKAP9	Single nucleotide variant (5 prime UTR variant)	Congenital long QT syndrome	GUncertain significance
Select item 360808	NM_005751.5(AKAP9):c.-160G>A	AKAP9	Single nucleotide variant (5 prime UTR variant)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 1223257	NM_005751.5(AKAP9):c.-129G>A	AKAP9	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 360809	NM_005751.5(AKAP9):c.-124G>C	AKAP9	Single nucleotide variant (5 prime UTR variant)	Congenital long QT syndrome +2 more	GBenign/Likely benign
Select item 360810	NM_005751.5(AKAP9):c.-120G>A	AKAP9	Single nucleotide variant (5 prime UTR variant)	Congenital long QT syndrome	GUncertain significance
Select item 360811	NM_005751.5(AKAP9):c.-107C>T	AKAP9	Single nucleotide variant (5 prime UTR variant)	Congenital long QT syndrome	GUncertain significance
Select item 360812	NM_005751.5(AKAP9):c.-105C>T	AKAP9	Single nucleotide variant (5 prime UTR variant)	Congenital long QT syndrome	GUncertain significance
Select item 527121	NC_000007.13:g.(?_91570394)_(92085896_?)dup	AKAP9, ANKIB1 +19 more	Duplication	Long QT syndrome	GUncertain significance
Select item 3336131	NM_005751.5(AKAP9):c.-18G>T	AKAP9, LOC129998788	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 2913132	NM_005751.5(AKAP9):c.6G>A (p.Glu2=)	AKAP9, LOC129998788	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 519248	NM_005751.5(AKAP9):c.9C>T (p.Asp3=)	AKAP9, LOC129998788	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1792119	NM_005751.5(AKAP9):c.10G>C (p.Glu4Gln)	AKAP9, LOC129998788 (E4Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2883247	NM_005751.5(AKAP9):c.15G>T (p.Glu5Asp)	AKAP9, LOC129998788 (E5D)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1780369	NM_005751.5(AKAP9):c.17G>A (p.Arg6Lys)	AKAP9, LOC129998788 (R6K)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1785872	NM_005751.5(AKAP9):c.20A>C (p.Gln7Pro)	AKAP9, LOC129998788 (Q7P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1792220	NM_005751.5(AKAP9):c.24G>A (p.Lys8=)	AKAP9, LOC129998788	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2472002	NM_005751.5(AKAP9):c.25A>C (p.Lys9Gln)	AKAP9, LOC129998788 (K9Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 618522	NM_005751.5(AKAP9):c.28C>T (p.Leu10=)	AKAP9, LOC129998788	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1350389	NM_005751.5(AKAP9):c.29T>C (p.Leu10Pro)	AKAP9, LOC129998788 (L10P)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2129616	NM_005751.5(AKAP9):c.30G>T (p.Leu10=)	AKAP9, LOC129998788	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1367955	NM_005751.5(AKAP9):c.32A>G (p.Glu11Gly)	AKAP9, LOC129998788 (E11G)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 526996	NM_005751.5(AKAP9):c.34G>A (p.Ala12Thr)	AKAP9, LOC129998788 (A12T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 518853	NM_005751.5(AKAP9):c.36C>T (p.Ala12=)	AKAP9, LOC129998788	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1735049	NM_005751.5(AKAP9):c.37G>A (p.Gly13Ser)	AKAP9, LOC129998788 (G13S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1413812	NM_005751.5(AKAP9):c.39C>T (p.Gly13=)	AKAP9, LOC129998788	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 412028	NM_005751.5(AKAP9):c.41A>C (p.Lys14Thr)	AKAP9, LOC129998788 (K14T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2885890	NM_005751.5(AKAP9):c.44C>T (p.Ala15Val)	AKAP9, LOC129998788 (A15V)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 457104	NM_005751.5(AKAP9):c.48+5GA[3]	AKAP9, LOC129998788	Microsatellite (intron variant)	Long QT syndrome	GLikely benign
Select item 940058	NM_005751.5(AKAP9):c.48+5G>A	AKAP9, LOC129998788	Single nucleotide variant (intron variant)	Long QT syndrome +3 more	GUncertain significance
Select item 762161	NM_005751.5(AKAP9):c.48+10C>T	AKAP9	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 1541675	NM_005751.5(AKAP9):c.48+11C>T	AKAP9	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 1935219	NM_005751.5(AKAP9):c.48+14A>T	AKAP9	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2421528	NM_005751.5(AKAP9):c.48+20C>T	AKAP9	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 672176	NM_005751.5(AKAP9):c.48+154C>A	AKAP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 153357	GRCh38/hg38 7q21.2(chr7:91954655-91988744)x3	AKAP9	Copy number gain	See cases	GUncertain significance
Select item 1276977	NM_005751.5(AKAP9):c.49-3200A>C	AKAP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271073	NM_005751.5(AKAP9):c.49-3200A>G	AKAP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675573	NM_005751.5(AKAP9):c.49-21G>A	AKAP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1744269	NM_005751.5(AKAP9):c.49-3T>C	AKAP9	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1677797	NC_000007.14:g.91973711_91973719del	AKAP9	Deletion (genic upstream transcript variant)	not provided +1 more	GUncertain significance
Select item 1299922	NM_005751.5(AKAP9):c.54C>A (p.Ala18=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 3282373	NM_005751.5(AKAP9):c.61C>G (p.Arg21Gly)	AKAP9 (R21G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 411962	NM_005751.5(AKAP9):c.61C>T (p.Arg21Ter)	AKAP9 (R21*)	Single nucleotide variant (nonsense)	Long QT syndrome +2 more	GUncertain significance
Select item 3017917	NM_005751.5(AKAP9):c.62G>A (p.Arg21Gln)	AKAP9 (R21Q)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1470798	NM_005751.5(AKAP9):c.67A>G (p.Arg23Gly)	AKAP9 (R23G)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1758174	NM_005751.5(AKAP9):c.72A>G (p.Lys24=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 180259	NM_005751.5(AKAP9):c.73G>A (p.Ala25Thr)	AKAP9 (A25T)	Single nucleotide variant (missense variant)	Ventricular tachycardia	GUncertain significance
Select item 1760671	NM_005751.5(AKAP9):c.77A>C (p.Gln26Pro)	AKAP9 (Q26P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1090039	NM_005751.5(AKAP9):c.78G>A (p.Gln26=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2449756	NM_005751.5(AKAP9):c.80C>G (p.Ser27Trp)	AKAP9 (S27W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 136346	NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu)	AKAP9 (S27L)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 518860	NM_005751.5(AKAP9):c.81G>A (p.Ser27=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GBenign/Likely benign
Select item 2051524	NM_005751.5(AKAP9):c.82G>A (p.Asp28Asn)	AKAP9 (D28N)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1766858	NM_005751.5(AKAP9):c.93T>G (p.Ser31Arg)	AKAP9 (S31R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225011	NM_005751.5(AKAP9):c.116dup (p.Arg40fs)	AKAP9 (R40fs)	Duplication (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 190516	NM_005751.5(AKAP9):c.109A>G (p.Lys37Glu)	AKAP9 (K37E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 190499	NM_005751.5(AKAP9):c.119G>A (p.Arg40Lys)	AKAP9 (R40K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3225015	NM_005751.5(AKAP9):c.125C>T (p.Thr42Met)	AKAP9 (T42M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 518785	NM_005751.5(AKAP9):c.126G>A (p.Thr42=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 3225016	NM_005751.5(AKAP9):c.128C>T (p.Ser43Leu)	AKAP9 (S43L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1903245	NM_005751.5(AKAP9):c.134G>A (p.Ser45Asn)	AKAP9 (S45N)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1771244	NM_005751.5(AKAP9):c.137A>G (p.Lys46Arg)	AKAP9 (K46R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 191549	NM_005751.5(AKAP9):c.139C>T (p.His47Tyr)	AKAP9 (H47Y)	Single nucleotide variant (missense variant)	Atrial fibrillation +9 more	GBenign/Likely benign
Select item 2564447	NM_005751.5(AKAP9):c.141_143delinsCGG (p.Asp48Gly)	AKAP9 (D48G)	Indel (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2564446	NM_005751.5(AKAP9):c.141T>C (p.His47=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2564448	NM_005751.5(AKAP9):c.143A>G (p.Asp48Gly)	AKAP9 (D48G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1773335	NM_005751.5(AKAP9):c.146T>A (p.Val49Glu)	AKAP9 (V49E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2820352	NM_005751.5(AKAP9):c.155_156del (p.His52fs)	AKAP9 (H52fs)	Microsatellite (frameshift variant)	Long QT syndrome	GUncertain significance
Select item 360813	NM_005751.5(AKAP9):c.158A>G (p.His53Arg)	AKAP9 (H53R)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2891541	NM_005751.5(AKAP9):c.166A>G (p.Asn56Asp)	AKAP9 (N56D)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2150166	NM_005751.5(AKAP9):c.172G>A (p.Asp58Asn)	AKAP9 (D58N)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 859009	NM_005751.5(AKAP9):c.177A>G (p.Gln59=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 1780331	NM_005751.5(AKAP9):c.179C>T (p.Ser60Leu)	AKAP9 (S60L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1781126	NM_005751.5(AKAP9):c.183G>A (p.Gln61=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 1368177	NM_005751.5(AKAP9):c.185G>C (p.Cys62Ser)	AKAP9 (C62S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 653920	NM_005751.5(AKAP9):c.185G>A (p.Cys62Tyr)	AKAP9 (C62Y)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 2693759	NM_005751.5(AKAP9):c.193A>G (p.Met65Val)	AKAP9 (M65V)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1783938	NM_005751.5(AKAP9):c.198C>T (p.Tyr66=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 1785854	NM_005751.5(AKAP9):c.209C>A (p.Ser70Tyr)	AKAP9 (S70Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1023407	NM_005751.5(AKAP9):c.211C>G (p.Gln71Glu)	AKAP9 (Q71E)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GUncertain significance
Select item 1786877	NM_005751.5(AKAP9):c.215G>C (p.Arg72Thr)	AKAP9 (R72T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3282015	NM_005751.5(AKAP9):c.217G>A (p.Val73Ile)	AKAP9 (V73I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 844374	NM_005751.5(AKAP9):c.217G>T (p.Val73Leu)	AKAP9 (V73L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1787542	NM_005751.5(AKAP9):c.219A>G (p.Val73=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1788569	NM_005751.5(AKAP9):c.225A>G (p.Ser75=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2061981	NM_005751.5(AKAP9):c.228T>A (p.Thr76=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1107436	NM_005751.5(AKAP9):c.231G>T (p.Val77=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 190500	NM_005751.5(AKAP9):c.235C>T (p.Pro79Ser)	AKAP9 (P79S)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3225028	NM_005751.5(AKAP9):c.245C>G (p.Thr82Arg)	AKAP9 (T82R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1163282	NM_005751.5(AKAP9):c.257C>G (p.Thr86Ser)	AKAP9 (T86S)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 1149697	NM_005751.5(AKAP9):c.261A>G (p.Leu87=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome 11 +2 more	GLikely benign
Select item 457094	NM_005751.5(AKAP9):c.264T>G (p.His88Gln)	AKAP9 (H88Q)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2564454	NM_005751.5(AKAP9):c.268G>A (p.Gly90Arg)	AKAP9 (G90R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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