ClinVar for MedGen (Select 52736) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3775049	NM_000212.3(ITGB3):c.1552C>T (p.Gln518Ter)	ITGB3 (Q518*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenicFDA Recognized database
Select item 3730246	NM_000419.5(ITGA2B):c.1947-14C>A	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3729447	NM_000419.5(ITGA2B):c.1587T>C (p.Ile529=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3726738	NM_000419.5(ITGA2B):c.2349-3C>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3723339	NM_000419.5(ITGA2B):c.2602-16T>A	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3723136	NM_000419.5(ITGA2B):c.574+3A>G	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3722732	NM_000419.5(ITGA2B):c.501G>T (p.Glu167Asp)	ITGA2B (E167D)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3720705	NM_000419.5(ITGA2B):c.2438A>C (p.His813Pro)	ITGA2B (H813P)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3720704	NM_000419.5(ITGA2B):c.2773G>C (p.Glu925Gln)	ITGA2B (E925Q)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3719604	NM_000419.5(ITGA2B):c.1316A>G (p.Asp439Gly)	ITGA2B (D439G)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3718921	NM_000419.5(ITGA2B):c.1184G>A (p.Gly395Asp)	ITGA2B (G395D)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3718457	NM_000419.5(ITGA2B):c.413G>T (p.Cys138Phe)	ITGA2B, LOC130060983 (C138F)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3718156	NM_000419.5(ITGA2B):c.574+18C>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3717781	NM_000419.5(ITGA2B):c.1827T>C (p.Ala609=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3717137	NM_000419.5(ITGA2B):c.2267+14G>A	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3716257	NM_000419.5(ITGA2B):c.2212G>A (p.Val738Met)	ITGA2B (V738M)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3716008	NM_000419.5(ITGA2B):c.100C>A (p.Leu34Met)	ITGA2B (L34M)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3715374	NM_000419.5(ITGA2B):c.1108G>A (p.Ala370Thr)	ITGA2B (A370T)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3715273	NM_000419.5(ITGA2B):c.1704G>A (p.Leu568=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3715236	NM_000419.5(ITGA2B):c.311G>T (p.Arg104Leu)	ITGA2B (R104L)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3714857	NM_000419.5(ITGA2B):c.2009A>G (p.Asn670Ser)	ITGA2B (N670S)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3714528	NM_000419.5(ITGA2B):c.2505G>A (p.Pro835=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3713743	NM_000419.5(ITGA2B):c.1644G>A (p.Gln548=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3712551	NM_000419.5(ITGA2B):c.1911C>T (p.Asp637=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3712538	NM_000419.5(ITGA2B):c.2122AAG[1] (p.Lys709del)	ITGA2B (K709del)	Microsatellite	Glanzmann thrombasthenia	GUncertain significance
Select item 3712350	NM_000419.5(ITGA2B):c.998G>A (p.Gly333Glu)	ITGA2B (G333E)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3712172	NM_000419.5(ITGA2B):c.214C>T (p.Arg72Trp)	ITGA2B (R72W)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3712103	NM_000419.5(ITGA2B):c.194_202del (p.Ala65_Val67del)	ITGA2B	Deletion	Glanzmann thrombasthenia	GUncertain significance
Select item 3711949	NM_000419.5(ITGA2B):c.49G>A (p.Val17Met)	ITGA2B (V17M)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3711825	NM_000419.5(ITGA2B):c.2806G>A (p.Val936Met)	ITGA2B (V936M)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3711009	NM_000419.5(ITGA2B):c.813C>T (p.Ala271=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3710730	NM_000419.5(ITGA2B):c.2010C>G (p.Asn670Lys)	ITGA2B (N670K)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3710485	NM_000419.5(ITGA2B):c.891+5G>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3710472	NM_000419.5(ITGA2B):c.2316G>A (p.Pro772=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3710470	NM_000419.5(ITGA2B):c.2162G>A (p.Gly721Asp)	ITGA2B (G721D)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3710405	NM_000419.5(ITGA2B):c.859G>A (p.Gly287Ser)	ITGA2B (G287S)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3710098	NM_000419.5(ITGA2B):c.2183C>T (p.Ala728Val)	ITGA2B (A728V)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3710085	NM_000419.5(ITGA2B):c.1341C>T (p.Ala447=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3709990	NM_000419.5(ITGA2B):c.2594C>T (p.Pro865Leu)	ITGA2B (P865L)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3709809	NM_000419.5(ITGA2B):c.2143G>A (p.Val715Met)	ITGA2B (V715M)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3709664	NM_000419.5(ITGA2B):c.2602-3C>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3709608	NM_000419.5(ITGA2B):c.1531A>G (p.Thr511Ala)	ITGA2B (T511A)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3709407	NM_000419.5(ITGA2B):c.1611C>T (p.Ala537=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3709375	NM_000419.5(ITGA2B):c.119C>T (p.Thr40Ile)	ITGA2B (T40I)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3709372	NM_000419.5(ITGA2B):c.1641C>T (p.Arg547=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3709298	NM_000419.5(ITGA2B):c.908C>A (p.Ser303Tyr)	ITGA2B (S303Y)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3707255	NM_000419.5(ITGA2B):c.2367C>T (p.Ser789=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3705849	NM_000419.5(ITGA2B):c.1525A>G (p.Thr509Ala)	ITGA2B (T509A)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3704938	NM_000419.5(ITGA2B):c.1272G>A (p.Leu424=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3704069	NM_000419.5(ITGA2B):c.1545-11C>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3703855	NM_000419.5(ITGA2B):c.1414G>A (p.Gly472Arg)	ITGA2B (G472R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3703620	NM_000419.5(ITGA2B):c.1466T>C (p.Val489Ala)	ITGA2B (V489A)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3703102	NM_000419.5(ITGA2B):c.1020C>T (p.Gly340=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3696596	NM_000419.5(ITGA2B):c.2841+17T>G	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3695019	NM_000419.5(ITGA2B):c.1878+12C>A	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3687751	NM_000419.5(ITGA2B):c.1536C>G (p.Pro512=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GBenign
Select item 3686970	NM_000419.5(ITGA2B):c.1105C>T (p.His369Tyr)	ITGA2B (H369Y)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3682929	NM_000419.5(ITGA2B):c.189-18C>G	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3678127	NM_000419.5(ITGA2B):c.624+17del	ITGA2B	Deletion (intron variant)	Glanzmann thrombasthenia	GBenign
Select item 3675765	NM_000419.5(ITGA2B):c.1728C>T (p.Cys576=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3673146	NM_000419.5(ITGA2B):c.2187+17G>A	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3672103	NM_000419.5(ITGA2B):c.420C>A (p.Pro140=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3667371	NM_000419.5(ITGA2B):c.946-19G>A	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3666205	NM_000419.5(ITGA2B):c.3082C>T (p.Arg1028Trp)	ITGA2B (R1028W)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3666003	NM_000419.5(ITGA2B):c.1401C>G (p.Ile467Met)	ITGA2B (I467M)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3665211	NM_000419.5(ITGA2B):c.2267+18G>A	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3664253	NM_000419.5(ITGA2B):c.2202G>A (p.Met734Ile)	ITGA2B (M734I)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3655183	NM_000419.5(ITGA2B):c.1900G>A (p.Gly634Arg)	ITGA2B (G634R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3654452	NM_000419.5(ITGA2B):c.1076T>A (p.Val359Glu)	ITGA2B (V359E)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3652564	NC_000017.11:g.44385077del	ITGA2B	Deletion	Glanzmann thrombasthenia	GPathogenic
Select item 3650777	NM_000419.5(ITGA2B):c.1911C>G (p.Asp637Glu)	ITGA2B (D637E)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3647835	NM_000419.5(ITGA2B):c.2602-5C>A	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3643094	NM_000419.5(ITGA2B):c.575-3C>A	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3637636	NM_000419.5(ITGA2B):c.2310C>T (p.Asp770=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3634246	NM_000419.5(ITGA2B):c.2043C>T (p.Ala681=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3632793	NM_000419.5(ITGA2B):c.2187+18T>G	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3630358	NM_000419.5(ITGA2B):c.1600+20C>A	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3627670	NM_000419.5(ITGA2B):c.575-21CCT[2]	ITGA2B	Microsatellite (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3627303	NM_000419.5(ITGA2B):c.860G>A (p.Gly287Asp)	ITGA2B (G287D)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3625897	NM_000419.5(ITGA2B):c.1818C>T (p.Pro606=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3625844	NM_000419.5(ITGA2B):c.992G>A (p.Gly331Glu)	ITGA2B (G331E)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3625670	NM_000419.5(ITGA2B):c.2529G>A (p.Leu843=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3625450	NM_000419.5(ITGA2B):c.2728-3C>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3621830	NM_000419.5(ITGA2B):c.1600+16G>C	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3617535	NM_000419.5(ITGA2B):c.311-17C>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3612831	NM_000419.5(ITGA2B):c.408+14T>C	LOC130060983, ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3612251	NM_000419.5(ITGA2B):c.1623G>A (p.Leu541=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3611902	NM_000419.5(ITGA2B):c.2364C>T (p.Ala788=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3610892	NM_000419.5(ITGA2B):c.946-18G>C	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3609063	NM_000419.5(ITGA2B):c.551G>T (p.Arg184Leu)	ITGA2B (R184L)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance
Select item 3608530	NM_000419.5(ITGA2B):c.670+20C>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely benign
Select item 3391416	NM_000419.5(ITGA2B):c.575-2A>T	ITGA2B	Single nucleotide variant (splice acceptor variant)	Glanzmann thrombasthenia	GPathogenicFDA Recognized database
Select item 3391415	NM_000419.5(ITGA2B):c.3001_3010dup (p.Val1004fs)	ITGA2B (V1004fs)	Microsatellite (frameshift variant)	Glanzmann thrombasthenia	GLikely pathogenicFDA Recognized database
Select item 3391414	NM_000419.5(ITGA2B):c.2943G>A (p.Gln981=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GUncertain significanceFDA Recognized database
Select item 3391413	NM_000419.5(ITGA2B):c.989A>T (p.Asn330Ile)	ITGA2B (N330I)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenicFDA Recognized database
Select item 3391412	NM_000419.5(ITGA2B):c.1355T>G (p.Leu452Arg)	ITGA2B (L452R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenicFDA Recognized database
Select item 3391411	NM_000212.3(ITGB3):c.383T>G (p.Ile128Ser)	ITGB3 (I128S)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenicFDA Recognized database
Select item 3391410	NM_000419.5(ITGA2B):c.188+1G>A	ITGA2B	Single nucleotide variant (splice donor variant)	Glanzmann thrombasthenia	GPathogenicFDA Recognized database
Select item 3358852	NM_000419.5(ITGA2B):c.1947-9T>C	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significanceFDA Recognized database
Select item 3286705	NM_000419.5(ITGA2B):c.2911C>A (p.Pro971Thr)	ITGA2B (P971T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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