7884[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 1232666	NM_004557.4(NOTCH4):c.5952C>T (p.Asp1984=)	GPSM3, NOTCH4	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2205490	NM_004557.4(NOTCH4):c.5920C>T (p.Pro1974Ser)	NOTCH4 (P1974S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597859	NM_004557.4(NOTCH4):c.5917A>T (p.Thr1973Ser)	NOTCH4 (T1973S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300510	NM_004557.4(NOTCH4):c.5915T>C (p.Leu1972Pro)	NOTCH4 (L1972P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201408	NM_004557.4(NOTCH4):c.5818C>T (p.Arg1940Cys)	NOTCH4 (R1940C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273862	NM_004557.4(NOTCH4):c.5750C>T (p.Ser1917Phe)	NOTCH4 (S1917F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241977	NM_004557.4(NOTCH4):c.5738G>C (p.Gly1913Ala)	NOTCH4 (G1913A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553511	NM_004557.4(NOTCH4):c.5696G>C (p.Ser1899Thr)	NOTCH4 (S1899T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306070	NM_004557.4(NOTCH4):c.5693G>A (p.Arg1898Gln)	NOTCH4 (R1898Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1241905	NM_004557.4(NOTCH4):c.5685T>G (p.Ser1895=)	NOTCH4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3300504	NM_004557.4(NOTCH4):c.5651T>C (p.Val1884Ala)	NOTCH4 (V1884A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373434	NM_004557.4(NOTCH4):c.5612G>A (p.Arg1871His)	NOTCH4 (R1871H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1277130	NM_004557.4(NOTCH4):c.5562G>A (p.Gly1854=)	NOTCH4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3201407	NM_004557.4(NOTCH4):c.5548G>T (p.Val1850Leu)	NOTCH4 (V1850L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397497	NM_004557.4(NOTCH4):c.5497C>A (p.Pro1833Thr)	NOTCH4 (P1833T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299987	NM_004557.4(NOTCH4):c.5464G>A (p.Ala1822Thr)	NOTCH4 (A1822T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1290716	NM_004557.4(NOTCH4):c.5427A>G (p.Gln1809=)	NOTCH4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3300505	NM_004557.4(NOTCH4):c.5405C>A (p.Ala1802Glu)	NOTCH4 (A1802E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732039	NM_004557.4(NOTCH4):c.5299-3C>G	NOTCH4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3300514	NM_004557.4(NOTCH4):c.5269G>C (p.Gly1757Arg)	NOTCH4 (G1757R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1258765	NM_004557.4(NOTCH4):c.5200+36del	NOTCH4	Deletion (intron variant)	not provided	GBenign
Select item 2351394	NM_004557.4(NOTCH4):c.5143G>A (p.Asp1715Asn)	NOTCH4 (D1715N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 735623	NM_004557.4(NOTCH4):c.5103G>A (p.Gly1701=)	NOTCH4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 709047	NM_004557.4(NOTCH4):c.5083G>A (p.Asp1695Asn)	NOTCH4 (D1695N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2271916	NM_004557.4(NOTCH4):c.5062C>T (p.Arg1688Cys)	NOTCH4 (R1688C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311709	NM_004557.4(NOTCH4):c.5059C>T (p.Leu1687Phe)	NOTCH4 (L1687F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1254994	NM_004557.4(NOTCH4):c.5053-20C>G	NOTCH4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287426	NM_004557.4(NOTCH4):c.5053-25G>T	NOTCH4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 285625	NM_004557.4(NOTCH4):c.4927C>T (p.Arg1643Ter)	NOTCH4 (R1643*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2203757	NM_004557.4(NOTCH4):c.4855C>A (p.Leu1619Met)	NOTCH4 (L1619M)	Single nucleotide variant (missense variant +1 more)	Cerebral arteriovenous malformation	GUncertain significance
Select item 769679	NM_004557.4(NOTCH4):c.4828T>C (p.Leu1610=)	NOTCH4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2380255	NM_004557.4(NOTCH4):c.4774A>T (p.Met1592Leu)	NOTCH4 (M1592L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382139	NM_004557.4(NOTCH4):c.4768C>A (p.Pro1590Thr)	NOTCH4 (P1590T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255217	NM_004557.4(NOTCH4):c.4766C>T (p.Thr1589Ile)	NOTCH4 (T1589I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1179245	NM_004557.4(NOTCH4):c.4757-73T>C	NOTCH4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221293	NM_004557.4(NOTCH4):c.4757-212C>T	NOTCH4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244465	NM_004557.4(NOTCH4):c.4756+37del	NOTCH4	Deletion (intron variant)	not provided	GBenign
Select item 2205853	NM_004557.4(NOTCH4):c.4748G>A (p.Arg1583His)	NOTCH4 (R1583H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1280287	NM_004557.4(NOTCH4):c.4618-44G>C	NOTCH4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232677	NM_004557.4(NOTCH4):c.4617+42G>C	NOTCH4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3201406	NM_004557.4(NOTCH4):c.4475G>A (p.Arg1492Gln)	NOTCH4 (R1492Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312610	NM_004557.4(NOTCH4):c.4427G>A (p.Arg1476Gln)	NOTCH4 (R1476Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300511	NM_004557.4(NOTCH4):c.4415G>A (p.Arg1472Gln)	NOTCH4 (R1472Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732463	NM_004557.4(NOTCH4):c.4407G>A (p.Gln1469=)	NOTCH4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 3300518	NM_004557.4(NOTCH4):c.4345G>A (p.Val1449Met)	NOTCH4 (V1449M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1277906	NM_004557.4(NOTCH4):c.4316-87C>A	NOTCH4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2404957	NM_004557.4(NOTCH4):c.4283C>T (p.Pro1428Leu)	NOTCH4 (P1428L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314303	NM_004557.4(NOTCH4):c.4198C>T (p.Arg1400Cys)	NOTCH4 (R1400C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201405	NM_004557.4(NOTCH4):c.4196C>T (p.Ser1399Phe)	NOTCH4 (S1399F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1259043	NM_004557.4(NOTCH4):c.4152C>A (p.Val1384=)	NOTCH4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3024750	NM_004557.4(NOTCH4):c.4101G>A (p.Thr1367=)	NOTCH4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3201404	NM_004557.4(NOTCH4):c.4070C>T (p.Pro1357Leu)	NOTCH4 (P1357L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201403	NM_004557.4(NOTCH4):c.4064G>A (p.Arg1355Gln)	NOTCH4 (R1355Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201402	NM_004557.4(NOTCH4):c.4063C>T (p.Arg1355Trp)	NOTCH4 (R1355W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300512	NM_004557.4(NOTCH4):c.4051C>G (p.Leu1351Val)	NOTCH4 (L1351V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201401	NM_004557.4(NOTCH4):c.4024T>C (p.Tyr1342His)	NOTCH4 (Y1342H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300509	NM_004557.4(NOTCH4):c.3998G>C (p.Arg1333Pro)	NOTCH4 (R1333P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 750025	NM_004557.4(NOTCH4):c.3957G>A (p.Leu1319=)	NOTCH4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656449	NM_004557.4(NOTCH4):c.3927C>T (p.Asp1309=)	NOTCH4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3201400	NM_004557.4(NOTCH4):c.3796G>A (p.Gly1266Arg)	NOTCH4 (G1266R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201399	NM_004557.4(NOTCH4):c.3793A>G (p.Asn1265Asp)	NOTCH4 (N1265D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483535	NM_004557.4(NOTCH4):c.3748G>A (p.Ala1250Thr)	NOTCH4 (A1250T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3300507	NM_004557.4(NOTCH4):c.3656G>T (p.Arg1219Leu)	NOTCH4 (R1219L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785165	NM_004557.4(NOTCH4):c.3637G>C (p.Gly1213Arg)	NOTCH4 (G1213R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2384005	NM_004557.4(NOTCH4):c.3601G>A (p.Gly1201Arg)	NOTCH4 (G1201R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1129479	NM_004557.4(NOTCH4):c.3581C>T (p.Pro1194Leu)	NOTCH4 (P1194L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2310164	NM_004557.4(NOTCH4):c.3505C>T (p.Arg1169Trp)	NOTCH4 (R1169W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201398	NM_004557.4(NOTCH4):c.3392C>T (p.Pro1131Leu)	NOTCH4 (P1131L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214092	NM_004557.4(NOTCH4):c.3320A>G (p.Lys1107Arg)	NOTCH4 (K1107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743388	NM_004557.4(NOTCH4):c.3295G>A (p.Gly1099Arg)	NOTCH4 (G1099R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3300506	NM_004557.4(NOTCH4):c.3274G>A (p.Gly1092Ser)	NOTCH4 (G1092S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1287108	NM_004557.4(NOTCH4):c.3232-31G>C	NOTCH4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260628	NM_004557.4(NOTCH4):c.3232-57G>A	NOTCH4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294876	NM_004557.4(NOTCH4):c.3232-89del	NOTCH4	Deletion (intron variant)	not provided	GBenign
Select item 1258613	NM_004557.4(NOTCH4):c.3231+179A>G	NOTCH4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2508211	NM_004557.4(NOTCH4):c.3202C>T (p.Pro1068Ser)	NOTCH4 (P1068S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201397	NM_004557.4(NOTCH4):c.3200C>T (p.Ser1067Leu)	NOTCH4 (S1067L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201396	NM_004557.4(NOTCH4):c.3161C>T (p.Pro1054Leu)	NOTCH4 (P1054L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294549	NM_004557.4(NOTCH4):c.3140T>C (p.Ile1047Thr)	NOTCH4 (I1047T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1287377	NM_004557.4(NOTCH4):c.3119-24A>G	NOTCH4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2315975	NM_004557.4(NOTCH4):c.3034G>C (p.Asp1012His)	NOTCH4 (D1012H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539336	NM_004557.4(NOTCH4):c.2969T>A (p.Phe990Tyr)	NOTCH4 (F990Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1277124	NM_004557.4(NOTCH4):c.2967A>C (p.Gly989=)	NOTCH4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 770173	NM_004557.4(NOTCH4):c.2865+9G>T	NOTCH4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3201395	NM_004557.4(NOTCH4):c.2840C>G (p.Ala947Gly)	NOTCH4 (A947G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477065	NM_004557.4(NOTCH4):c.2836A>G (p.Met946Val)	NOTCH4 (M946V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2483575	NM_004557.4(NOTCH4):c.2828C>T (p.Ala943Val)	NOTCH4 (A943V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1272247	NM_004557.4(NOTCH4):c.2824G>A (p.Gly942Arg)	NOTCH4 (G942R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3201394	NM_004557.4(NOTCH4):c.2791G>A (p.Val931Met)	NOTCH4 (V931M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553922	NM_004557.4(NOTCH4):c.2758C>G (p.Pro920Ala)	NOTCH4 (P920A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232428	NM_004557.4(NOTCH4):c.2727C>G (p.Asp909Glu)	NOTCH4 (D909E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201393	NM_004557.4(NOTCH4):c.2713G>A (p.Gly905Ser)	NOTCH4 (G905S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224930	NM_004557.4(NOTCH4):c.2689G>A (p.Val897Ile)	NOTCH4 (V897I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1294882	NM_004557.4(NOTCH4):c.2681-60A>G	NOTCH4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220581	NM_004557.4(NOTCH4):c.2681-189A>G	NOTCH4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250163	NM_004557.4(NOTCH4):c.2680+105T>C	NOTCH4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232034	NM_004557.4(NOTCH4):c.2680+10G>A	NOTCH4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2549046	NM_004557.4(NOTCH4):c.2677C>A (p.Gln893Lys)	NOTCH4 (Q893K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 746484	NM_004557.4(NOTCH4):c.2527-8C>T	NOTCH4	Single nucleotide variant (intron variant)	not provided	GLikely benign

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