484[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 149076	GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1	RRM2B, RSPO2 +188 more	Copy number loss	See cases	GPathogenic
Select item 144641	GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1	ABRA, ANGPT1 +154 more	Copy number loss	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57335	GRCh38/hg38 8q22.3-23.1(chr8:105053530-107803535)x1	ABRA, ANGPT1 +30 more	Copy number loss	See cases	GPathogenic
Select item 149563	GRCh38/hg38 8q23.1(chr8:106784262-107380780)x3	ANGPT1, LOC126860472 +3 more	Copy number gain	See cases	GLikely benign
Select item 57141	GRCh38/hg38 8q23.1(chr8:106784262-107356237)x3	ANGPT1, LOC126860472 +2 more	Copy number gain	See cases	GUncertain significance
Select item 150239	GRCh38/hg38 8q23.1(chr8:106801494-107326594)x3	ANGPT1, LOC126860472 +2 more	Copy number gain	See cases	GUncertain significance
Select item 154265	GRCh38/hg38 8q23.1(chr8:106805128-107380054)x3	ANGPT1, LOC126860472 +3 more	Copy number gain	See cases	GUncertain significance
Select item 145329	GRCh38/hg38 8q23.1(chr8:106840281-107356143)x3	ANGPT1, LOC126860472 +2 more	Copy number gain	See cases	GLikely benign
Select item 2752168	NM_001146.5(ANGPT1):c.1481G>C (p.Arg494Pro)	ANGPT1 (R294P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1506084	NM_001146.5(ANGPT1):c.1481G>A (p.Arg494Gln)	ANGPT1 (R294Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1120262	NM_001146.5(ANGPT1):c.1480C>T (p.Arg494Ter)	ANGPT1 (R494* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1934887	NM_001146.5(ANGPT1):c.1477A>G (p.Ile493Val)	ANGPT1 (I492V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421651	NM_001146.5(ANGPT1):c.1469C>T (p.Thr490Ile)	ANGPT1 (T490I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968481	NM_001146.5(ANGPT1):c.1460G>A (p.Arg487His)	ANGPT1 (R487H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1912696	NM_001146.5(ANGPT1):c.1459C>T (p.Arg487Cys)	ANGPT1 (R287C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1534027	NM_001146.5(ANGPT1):c.1456T>C (p.Leu486=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1620836	NM_001146.5(ANGPT1):c.1455C>T (p.Ser485=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788517	NM_001146.5(ANGPT1):c.1431C>T (p.His477=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1408805	NM_001146.5(ANGPT1):c.1411C>A (p.Leu471Met)	ANGPT1 (L470M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1135943	NM_001146.5(ANGPT1):c.1411C>T (p.Leu471=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914420	NM_001146.5(ANGPT1):c.1391C>T (p.Ala464Val)	ANGPT1 (A264V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793919	NM_001146.5(ANGPT1):c.1388C>A (p.Thr463Asn)	ANGPT1 (T462N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1525610	NM_001146.5(ANGPT1):c.1380G>A (p.Met460Ile)	ANGPT1 (M460I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1558054	NM_001146.5(ANGPT1):c.1337-18T>G	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247640	NM_001146.5(ANGPT1):c.1337-30T>C	ANGPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2701964	NM_001146.5(ANGPT1):c.1336+14G>A	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1490314	NM_001146.5(ANGPT1):c.1336+4A>G	ANGPT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2186611	NM_001146.5(ANGPT1):c.1269T>C (p.Ala423=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1592958	NM_001146.5(ANGPT1):c.1263C>T (p.His421=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716919	NM_001146.5(ANGPT1):c.1255A>T (p.Ile419Phe)	ANGPT1 (I418F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830187	NM_001146.5(ANGPT1):c.1206-13T>C	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164156	NM_001146.5(ANGPT1):c.1206-22dup	ANGPT1	Duplication (intron variant)	not provided	GBenign
Select item 1601516	NM_001146.5(ANGPT1):c.1206-15del	ANGPT1	Deletion (intron variant)	not provided	GBenign
Select item 1660322	NM_001146.5(ANGPT1):c.1206-18T>G	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908739	NM_001146.5(ANGPT1):c.1205+11C>T	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639466	NM_001146.5(ANGPT1):c.1194G>A (p.Lys398=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841351	NM_001146.5(ANGPT1):c.1186A>C (p.Asn396His)	ANGPT1 (N396H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1355486	NM_001146.5(ANGPT1):c.1184G>A (p.Gly395Glu)	ANGPT1 (G394E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176950	NM_001146.5(ANGPT1):c.1178A>T (p.His393Leu)	ANGPT1 (H392L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1475636	NM_001146.5(ANGPT1):c.1164G>T (p.Gln388His)	ANGPT1 (Q188H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968804	NM_001146.5(ANGPT1):c.1155C>G (p.Ala385=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2120594	NM_001146.5(ANGPT1):c.1153G>C (p.Ala385Pro)	ANGPT1 (A185P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987131	NM_001146.5(ANGPT1):c.1152A>G (p.Arg384=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778400	NM_001146.5(ANGPT1):c.1151G>A (p.Arg384Gln)	ANGPT1 (R384Q +2 more)	Single nucleotide variant (missense variant)	Hereditary angioedema type 3 +1 more	GConflicting classifications of pathogenicity
Select item 1631806	NM_001146.5(ANGPT1):c.1146G>T (p.Gly382=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850719	NM_001146.5(ANGPT1):c.1120del (p.Arg374fs)	ANGPT1 (R373fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2850720	NM_001146.5(ANGPT1):c.1117C>T (p.Leu373=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1383665	NM_001146.5(ANGPT1):c.1114A>G (p.Met372Val)	ANGPT1 (M172V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 979220	NM_001146.5(ANGPT1):c.1110G>C (p.Gln370His)	ANGPT1 (Q170H +2 more)	Single nucleotide variant (missense variant)	Hereditary angioedema type 3 +1 more	GUncertain significance
Select item 2696292	NM_001146.5(ANGPT1):c.1103A>C (p.Gln368Pro)	ANGPT1 (Q367P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1651348	NM_001146.5(ANGPT1):c.1092C>T (p.Ala364=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784844	NM_001146.5(ANGPT1):c.1088T>C (p.Phe363Ser)	ANGPT1 (F163S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486018	NM_001146.5(ANGPT1):c.1064A>G (p.Tyr355Cys)	ANGPT1 (Y354C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2200683	NM_001146.5(ANGPT1):c.1056C>T (p.Ser352=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1661968	NM_001146.5(ANGPT1):c.1039-4C>T	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1568601	NM_001146.5(ANGPT1):c.1039-12A>G	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990741	NM_001146.5(ANGPT1):c.1039-14A>G	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258333	NM_001146.5(ANGPT1):c.1038+204C>T	ANGPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1566109	NM_001146.5(ANGPT1):c.1038+18A>T	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1170082	NM_001146.5(ANGPT1):c.1038+9C>G	ANGPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1058656	NM_001146.5(ANGPT1):c.1038+3A>G	ANGPT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2148785	NM_001146.5(ANGPT1):c.1003C>T (p.Leu335=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013821	NM_001146.5(ANGPT1):c.996T>C (p.Asp332=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055971	NM_001146.5(ANGPT1):c.994G>A (p.Asp332Asn)	ANGPT1 (D332N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781570	NM_001146.5(ANGPT1):c.986A>G (p.His329Arg)	ANGPT1 (H328R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471723	NM_001146.5(ANGPT1):c.980_984del (p.Ile327fs)	ANGPT1 (I327fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2756172	NM_001146.5(ANGPT1):c.977T>C (p.Val326Ala)	ANGPT1 (V126A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016885	NM_001146.5(ANGPT1):c.963G>A (p.Gly321=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994059	NM_001146.5(ANGPT1):c.962G>A (p.Gly321Glu)	ANGPT1 (G320E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2245661	NM_001146.5(ANGPT1):c.959A>G (p.Asn320Ser)	ANGPT1 (N120S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1500427	NM_001146.5(ANGPT1):c.949A>G (p.Met317Val)	ANGPT1 (M117V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1387950	NM_001146.5(ANGPT1):c.946A>G (p.Asn316Asp)	ANGPT1 (N316D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2731952	NM_001146.5(ANGPT1):c.937-5G>A	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1961024	NM_001146.5(ANGPT1):c.937-10C>T	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656775	NM_001146.5(ANGPT1):c.937-12T>C	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551950	NM_001146.5(ANGPT1):c.937-20C>T	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257039	NM_001146.5(ANGPT1):c.937-102A>G	ANGPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226688	NM_001146.5(ANGPT1):c.937-222T>C	ANGPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264465	NM_001146.5(ANGPT1):c.937-238G>T	ANGPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265796	NM_001146.5(ANGPT1):c.936+191A>C	ANGPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1640719	NM_001146.5(ANGPT1):c.936+19G>T	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1609947	NM_001146.5(ANGPT1):c.936+12del	ANGPT1	Deletion (intron variant)	not provided	GBenign
Select item 2976027	NM_001146.5(ANGPT1):c.936+6A>C	ANGPT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1167367	NM_001146.5(ANGPT1):c.936+6A>G	ANGPT1	Single nucleotide variant (intron variant)	not provided	GBenign

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