LOC126860224[gene] - ClinVar

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Items: 56

	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 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)	NOS3-related disorder +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 disorder +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
Select item 2602249	NM_000603.5(NOS3):c.1421G>A (p.Arg474His)	LOC126860224, NOS3 (R474H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490248	NM_000603.5(NOS3):c.1463C>T (p.Thr488Ile)	LOC126860224, NOS3 (T488I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773218	NM_000603.5(NOS3):c.1464C>G (p.Thr488=)	LOC126860224, NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1262311	NM_000603.5(NOS3):c.1503-30A>G	LOC126860224, NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 754091	NM_000603.5(NOS3):c.1503-4G>A	LOC126860224, NOS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2276743	NM_000603.5(NOS3):c.1507G>A (p.Val503Met)	LOC126860224, NOS3 (V503M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323587	NM_000603.5(NOS3):c.1559C>T (p.Ala520Val)	LOC126860224, NOS3 (A520V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658165	NM_000603.5(NOS3):c.1602C>T (p.Tyr534=)	LOC126860224, NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1227505	NM_000603.5(NOS3):c.1648-38G>T	LOC126860224, NOS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 750452	NM_000603.5(NOS3):c.1656T>C (p.Cys552=)	LOC126860224, NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738548	NM_000603.5(NOS3):c.1707G>A (p.Val569=)	LOC126860224, NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 796936	NM_000603.5(NOS3):c.1713C>T (p.Thr571=)	LOC126860224, NOS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1275619	NM_000603.5(NOS3):c.1752+80AC[29]	LOC126860224, NOS3	Microsatellite (intron variant)	not provided	GBenign
Select item 1265223	NM_000603.5(NOS3):c.1752+80AC[30]	LOC126860224, NOS3	Microsatellite (intron variant)	not provided	GBenign
Select item 1261942	NM_000603.5(NOS3):c.1752+80AC[32]	LOC126860224, NOS3	Microsatellite (intron variant)	not provided	GBenign

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Items: 56