4846[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 236

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	LOC129999653, LOC129999654 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	C7orf33, CALD1 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	LOC129999666, LOC129999667 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	TMEM140, TMEM176A +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC129999503, LOC129999504 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LINC00996, LINC01003 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	WDR86, WDR86-AS1 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	LOC129999526, LOC129999527 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	LOC129999649, LOC129999650 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	ABCB8, ABCF2 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999755, LOC129999756 +573 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	LOC105375556, LOC105375589 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	ABCB8, ABCF2 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	ABCB8, ABCF2 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	LOC126860247, LOC126860248 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	ABCB8, ABCF2 +329 more	Copy number gain	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 149569	GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3	ABCB8, ABCF2 +212 more	Copy number gain	See cases	GLikely pathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	LOC129999582, LOC129999583 +407 more	Copy number loss	See cases	GPathogenic
Select item 150864	GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3	ABCB8, ABCF2 +205 more	Copy number gain	See cases	GUncertain significance
Select item 57001	GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1	ABCB8, ABCF2 +191 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	LOC129999632, LOC129999633 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 517660	NM_000603.5(NOS3):c.-51-762C>T	LOC110973015, NOS3	Single nucleotide variant (intron variant)	Metabolic syndrome, susceptibility to	Gprotective
Select item 14016	NM_000603.5(NOS3):c.-51-762=	LOC110973015, NOS3	Single nucleotide variant (intron variant)	Coronary artery spasm 1, susceptibility to	Grisk factor
Select item 764002	NM_000603.5(NOS3):c.24C>T (p.Ala8=)	LOC110973015, NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3201333	NM_000603.5(NOS3):c.35G>A (p.Gly12Glu)	LOC110973015, NOS3 (G12E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739880	NM_000603.5(NOS3):c.78C>T (p.Cys26=)	LOC110973015, NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3201324	NM_000603.5(NOS3):c.121G>T (p.Ala41Ser)	LOC110973015, NOS3 (A41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597782	NM_000603.5(NOS3):c.146C>T (p.Ala49Val)	LOC110973015, NOS3 (A49V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 929757	NM_000603.5(NOS3):c.172C>T (p.Pro58Ser)	NOS3 (P58S)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 2458934	NM_000603.5(NOS3):c.225G>C (p.Glu75Asp)	NOS3 (E75D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373900	NM_000603.5(NOS3):c.227T>C (p.Val76Ala)	NOS3 (V76A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 794142	NM_000603.5(NOS3):c.270+9G>A	NOS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229830	NM_000603.5(NOS3):c.270+42G>A	NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269294	NM_000603.5(NOS3):c.271-62C>G	NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 715805	NM_000603.5(NOS3):c.271-7G>T	NOS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2320435	NM_000603.5(NOS3):c.271G>A (p.Asp91Asn)	NOS3 (D91N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 931540	NM_000603.5(NOS3):c.284C>T (p.Thr95Ile)	NOS3 (T95I)	Single nucleotide variant (missense variant)	Essential hypertension	GUncertain significance
Select item 2634980	NM_000603.5(NOS3):c.292C>T (p.Arg98Cys)	NOS3 (R98C)	Single nucleotide variant (missense variant)	NOS3-related condition	GUncertain significance
Select item 1182440	NM_000603.5(NOS3):c.335G>A (p.Arg112Gln)	NOS3 (R112Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2548043	NM_000603.5(NOS3):c.368T>C (p.Leu123Pro)	NOS3 (L123P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220475	NM_000603.5(NOS3):c.371T>G (p.Leu124Arg)	NOS3 (L124R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201335	NM_000603.5(NOS3):c.377A>T (p.Gln126Leu)	NOS3 (Q126L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251377	NM_000603.5(NOS3):c.382C>T (p.Arg128Trp)	NOS3 (R128W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775259	NM_000603.5(NOS3):c.383G>A (p.Arg128Gln)	NOS3 (R128Q)	Single nucleotide variant (missense variant)	NOS3-related condition +1 more	GBenign/Likely benign
Select item 761693	NM_000603.5(NOS3):c.465C>G (p.Ala155=)	NOS3	Single nucleotide variant (synonymous variant)	Alzheimer disease type 1 +4 more	GBenign/Likely benign
Select item 929758	NM_000603.5(NOS3):c.505G>A (p.Glu169Lys)	NOS3 (E169K)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 2599379	NM_000603.5(NOS3):c.516C>A (p.Phe172Leu)	NOS3 (F172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739664	NM_000603.5(NOS3):c.520G>A (p.Ala174Thr)	NOS3 (A174T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1049058	NM_000603.5(NOS3):c.608C>A (p.Ser203Tyr)	NOS3 (S203Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2269499	NM_000603.5(NOS3):c.629A>G (p.Tyr210Cys)	NOS3 (Y210C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658163	NM_000603.5(NOS3):c.669C>G (p.Asn223Lys)	NOS3 (N223K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 751434	NM_000603.5(NOS3):c.696G>A (p.Pro232=)	NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2322908	NM_000603.5(NOS3):c.704G>T (p.Cys235Phe)	NOS3 (C235F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552462	NM_000603.5(NOS3):c.754G>T (p.Ala252Ser)	NOS3 (A252S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403248	NM_000603.5(NOS3):c.774T>C (p.Asp258=)	NOS3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2371494	NM_000603.5(NOS3):c.776G>A (p.Gly259Asp)	NOS3 (G259D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043814	NM_000603.5(NOS3):c.777C>G (p.Gly259=)	NOS3	Single nucleotide variant (synonymous variant)	NOS3-related condition	GLikely benign
Select item 3201336	NM_000603.5(NOS3):c.790G>T (p.Asp264Tyr)	NOS3 (D264Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780126	NM_000603.5(NOS3):c.801C>T (p.Asn267=)	NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711894	NM_000603.5(NOS3):c.816+9C>T	NOS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 756095	NM_000603.5(NOS3):c.816+10G>A	NOS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1256933	NM_000603.5(NOS3):c.817-26A>G	NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776272	NM_000603.5(NOS3):c.849C>T (p.Asn283=)	NOS3	Single nucleotide variant (synonymous variant)	NOS3-related condition +1 more	GBenign
Select item 2394892	NM_000603.5(NOS3):c.850G>A (p.Gly284Ser)	NOS3 (G284S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373790	NM_000603.5(NOS3):c.854G>A (p.Arg285His)	NOS3 (R285H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719652	NM_000603.5(NOS3):c.859G>A (p.Asp287Asn)	NOS3 (D287N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769735	NM_000603.5(NOS3):c.861C>T (p.Asp287=)	NOS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 496809	NM_000603.4(NOS3):c.[774T>C;894T>G]	NOS3 (D298E)	Single nucleotide variant (missense variant +1 more)	Metabolic syndrome, susceptibility to	Grisk factor
Select item 14015	NM_000603.5(NOS3):c.894T>G (p.Asp298Glu)	NOS3 (D298E)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 2274697	NM_000603.5(NOS3):c.919C>G (p.Pro307Ala)	NOS3 (P307A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566173	NM_000603.5(NOS3):c.922G>A (p.Glu308Lys)	NOS3 (E308K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734819	NM_000603.5(NOS3):c.957-7C>T	NOS3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3046811	NM_000603.5(NOS3):c.963G>A (p.Glu321=)	NOS3	Single nucleotide variant (synonymous variant)	NOS3-related condition	GLikely benign
Select item 3051485	NM_000603.5(NOS3):c.982C>T (p.Leu328=)	NOS3	Single nucleotide variant (synonymous variant)	NOS3-related condition	GLikely benign
Select item 1028848	NM_000603.5(NOS3):c.1052C>T (p.Ala351Val)	NOS3 (A351V)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 798272	NM_000603.5(NOS3):c.1131+9C>T	NOS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178891	NM_000603.5(NOS3):c.1132-253C>A	NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273030	NM_000603.5(NOS3):c.1132-199G>A	NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2613094	NM_000603.5(NOS3):c.1147A>C (p.Met383Leu)	NOS3 (M383L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299309	NM_000603.5(NOS3):c.1210G>A (p.Val404Met)	NOS3 (V404M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068500	NM_000603.5(NOS3):c.1250_1259del (p.Ile417fs)	LOC126860224, NOS3 (I417fs)	Deletion (frameshift variant)	Familial cancer of breast	GUncertain significance
Select item 744580	NM_000603.5(NOS3):c.1251C>T (p.Ile417=)	LOC126860224, NOS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3201325	NM_000603.5(NOS3):c.1252G>A (p.Val418Met)	LOC126860224, NOS3 (V418M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719909	NM_000603.5(NOS3):c.1264G>A (p.Ala422Thr)	LOC126860224, NOS3 (A422T)	Single nucleotide variant (missense variant)	NOS3-related condition +1 more	GBenign/Likely benign
Select item 735888	NM_000603.5(NOS3):c.1266C>T (p.Ala422=)	LOC126860224, NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658164	NM_000603.5(NOS3):c.1267G>A (p.Ala423Thr)	LOC126860224, NOS3 (A423T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3201326	NM_000603.5(NOS3):c.1271C>T (p.Thr424Met)	LOC126860224, NOS3 (T424M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 751120	NM_000603.5(NOS3):c.1413G>A (p.Pro471=)	LOC126860224, NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 3