6137[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
Select item 1246532	NC_000005.10:g.52989247C>G	ITGA2, ITGA2-AS1 +1 more	Single nucleotide variant	not provided	GBenign
Select item 1249583	NC_000005.10:g.52989268G>T	ITGA2, ITGA2-AS1 +1 more	Single nucleotide variant	not provided	GBenign
Select item 1237373	NC_000005.10:g.52989287T>C	ITGA2, ITGA2-AS1 +1 more	Single nucleotide variant	not provided	GBenign
Select item 353728	NM_002203.3(ITGA2):c.-124G>A	ITGA2, ITGA2-AS1	Single nucleotide variant	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 353729	NM_002203.4(ITGA2):c.-99G>C	ITGA2, ITGA2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 904497	NM_002203.4(ITGA2):c.-89T>A	ITGA2, ITGA2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 904498	NM_002203.4(ITGA2):c.-35C>T	ITGA2, ITGA2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 353730	NM_002203.4(ITGA2):c.-13G>A	ITGA2, ITGA2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 353731	NM_002203.4(ITGA2):c.11A>G (p.Glu4Gly)	ITGA2, ITGA2-AS1 (E4G)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 2367605	NM_002203.4(ITGA2):c.14G>C (p.Arg5Pro)	ITGA2, ITGA2-AS1 (R5P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3111185	NM_002203.4(ITGA2):c.25G>T (p.Ala9Ser)	ITGA2, ITGA2-AS1 (A9S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3286702	NM_002203.4(ITGA2):c.34C>A (p.Pro12Thr)	ITGA2, ITGA2-AS1 (P12T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1261291	NM_002203.4(ITGA2):c.64+283CA[12]	ITGA2, ITGA2-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1253474	NM_002203.4(ITGA2):c.64+283CA[13]	ITGA2, ITGA2-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1279129	NM_002203.4(ITGA2):c.64+309_64+312del	ITGA2, ITGA2-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1281037	NM_002203.4(ITGA2):c.64+305G>C	ITGA2, ITGA2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180869	NM_002203.4(ITGA2):c.65-209G>A	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1310989	NM_002203.4(ITGA2):c.85G>A (p.Ala29Thr)	ITGA2 (A29T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 904499	NM_002203.4(ITGA2):c.123C>T (p.Ser41=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 905281	NM_002203.4(ITGA2):c.171T>A (p.Asn57Lys)	ITGA2 (N57K)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GUncertain significance
Select item 3111181	NM_002203.4(ITGA2):c.183C>A (p.Asn61Lys)	ITGA2 (N61K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 353732	NM_002203.4(ITGA2):c.185+10T>C	ITGA2	Single nucleotide variant (intron variant)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 1262556	NM_002203.4(ITGA2):c.185+23G>T	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275434	NM_002203.4(ITGA2):c.185+287_185+290dup	ITGA2	Duplication (intron variant)	not provided	GBenign
Select item 1266358	NM_002203.4(ITGA2):c.186-186A>G	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270959	NM_002203.4(ITGA2):c.186-159T>C	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277882	NM_002203.4(ITGA2):c.186-34C>T	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3111183	NM_002203.4(ITGA2):c.212G>A (p.Gly71Asp)	ITGA2 (G71D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 353733	NM_002203.4(ITGA2):c.227G>A (p.Arg76Gln)	ITGA2 (R76Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2225910	NM_002203.4(ITGA2):c.250C>G (p.Pro84Ala)	ITGA2 (P84A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 729318	NM_002203.4(ITGA2):c.268G>A (p.Ala90Thr)	ITGA2 (A90T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1281085	NM_002203.4(ITGA2):c.295+32T>G	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263503	NM_002203.4(ITGA2):c.295+176=	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279990	NM_002203.4(ITGA2):c.295+190G>A	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179520	NM_002203.4(ITGA2):c.295+225T>C	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 353734	NM_002203.4(ITGA2):c.327G>A (p.Met109Ile)	ITGA2 (M109I)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 2515034	NM_002203.4(ITGA2):c.332C>A (p.Thr111Asn)	ITGA2 (T111N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2655460	NM_002203.4(ITGA2):c.387C>T (p.Leu129=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1274628	NM_002203.4(ITGA2):c.387+142A>G	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268227	NM_002203.4(ITGA2):c.387+188T>G	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275192	NM_002203.4(ITGA2):c.388-292C>T	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222385	NM_002203.4(ITGA2):c.388-147G>A	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2286019	NM_002203.4(ITGA2):c.437C>T (p.Thr146Met)	ITGA2 (T146M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 905282	NM_002203.4(ITGA2):c.502+12A>G	ITGA2	Single nucleotide variant (intron variant)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 353735	NM_002203.4(ITGA2):c.517A>G (p.Ile173Val)	ITGA2 (I173V)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign/Likely benign
Select item 905283	NM_002203.4(ITGA2):c.573A>G (p.Val191=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GUncertain significance
Select item 906879	NM_002203.4(ITGA2):c.602G>A (p.Gly201Asp)	ITGA2 (G201D)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GUncertain significance
Select item 353736	NM_002203.4(ITGA2):c.614G>T (p.Gly205Val)	ITGA2 (G205V)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GUncertain significance
Select item 353737	NM_002203.4(ITGA2):c.630+10A>G	ITGA2	Single nucleotide variant (intron variant)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 1291863	NM_002203.4(ITGA2):c.630+180G>A	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276652	NM_002203.4(ITGA2):c.630+237C>T	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221108	NM_002203.4(ITGA2):c.630+257_630+258del	ITGA2	Deletion (intron variant)	not provided	GBenign
Select item 353738	NM_002203.4(ITGA2):c.633G>A (p.Val211=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 353739	NM_002203.4(ITGA2):c.636G>T (p.Gly212=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 2402330	NM_002203.4(ITGA2):c.734A>G (p.Tyr245Cys)	ITGA2 (Y245C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 353740	NM_002203.4(ITGA2):c.756A>C (p.Thr252=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 353741	NM_002203.4(ITGA2):c.759C>T (p.Phe253=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 2273441	NM_002203.4(ITGA2):c.761G>A (p.Gly254Glu)	ITGA2 (G254E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1281786	NM_002203.4(ITGA2):c.779+172G>A	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234593	NM_002203.4(ITGA2):c.780-186A>G	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276564	NM_002203.4(ITGA2):c.780-132C>T	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251873	NM_002203.4(ITGA2):c.780-126A>G	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 353742	NM_002203.4(ITGA2):c.780-11A>T	ITGA2	Single nucleotide variant (intron variant)	Platelet-type bleeding disorder 9 +1 more	GLikely benign
Select item 353743	NM_002203.4(ITGA2):c.789T>C (p.Ala263=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 3111192	NM_002203.4(ITGA2):c.824C>T (p.Thr275Met)	ITGA2 (T275M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 353744	NM_002203.4(ITGA2):c.825G>A (p.Thr275=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 353745	NM_002203.4(ITGA2):c.849C>T (p.Asp283=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 907871	NM_002203.4(ITGA2):c.871A>T (p.Met291Leu)	ITGA2 (M291L)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 2630042	NM_002203.4(ITGA2):c.923G>C (p.Gly308Ala)	ITGA2 (G308A)	Single nucleotide variant (missense variant +1 more)	ITGA2-related disorder	GUncertain significance
Select item 3111193	NM_002203.4(ITGA2):c.925A>T (p.Ile309Leu)	ITGA2 (I309L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1179786	NM_002203.4(ITGA2):c.931-68G>A	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 353746	NM_002203.4(ITGA2):c.955G>A (p.Ala319Thr)	ITGA2 (A319T)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 353747	NM_002203.4(ITGA2):c.993A>G (p.Ala331=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 907872	NM_002203.4(ITGA2):c.996C>T (p.Ile332=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	Platelet-type bleeding disorder 9	GBenign
Select item 353748	NM_002203.4(ITGA2):c.1096+11dup	ITGA2	Duplication (intron variant)	Platelet-type bleeding disorder 9	GLikely benign
Select item 1257467	NM_002203.4(ITGA2):c.1097-242A>G	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 353749	NM_002203.4(ITGA2):c.1108G>A (p.Gly370Arg)	ITGA2 (G370R)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9	GUncertain significance
Select item 3111177	NM_002203.4(ITGA2):c.1117A>G (p.Asn373Asp)	ITGA2 (N373D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472189	NM_002203.4(ITGA2):c.1118A>G (p.Asn373Ser)	ITGA2 (N373S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 904557	NM_002203.4(ITGA2):c.1141G>A (p.Val381Met)	ITGA2 (V381M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1285861	NM_002203.4(ITGA2):c.1173+172A>T	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273806	NM_002203.4(ITGA2):c.1174-188G>A	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281849	NM_002203.4(ITGA2):c.1174-138A>G	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 904558	NM_002203.4(ITGA2):c.1176T>C (p.Asp392=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	Platelet-type bleeding disorder 9	GLikely benign
Select item 353750	NM_002203.4(ITGA2):c.1189G>A (p.Gly397Ser)	ITGA2 (G397S)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 9	GLikely benign
Select item 3111178	NM_002203.4(ITGA2):c.1217G>A (p.Gly406Glu)	ITGA2 (G406E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 724604	NM_002203.4(ITGA2):c.1302T>C (p.Ser434=)	ITGA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 353751	NM_002203.4(ITGA2):c.1312+12T>C	ITGA2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1280584	NM_002203.4(ITGA2):c.1312+164C>T	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276056	NM_002203.4(ITGA2):c.1313-39T>C	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278017	NM_002203.4(ITGA2):c.1313-30T>G	ITGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 904559	NM_002203.4(ITGA2):c.1372C>T (p.Arg458Trp)	ITGA2 (R458W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2383436	NM_002203.4(ITGA2):c.1373G>A (p.Arg458Gln)	ITGA2 (R458Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2689259	NM_002203.4(ITGA2):c.1411A>G (p.Asn471Asp)	ITGA2 (N471D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2216695	NM_002203.4(ITGA2):c.1424A>G (p.Asn475Ser)	ITGA2 (N475S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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