ITGA2-AS1[gene] - ClinVar

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Items: 40

	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 2655459	NM_181501.2(ITGA1):c.2784A>G (p.Glu928=)	ITGA1, ITGA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2612313	NM_181501.2(ITGA1):c.2785C>A (p.Pro929Thr)	ITGA1, ITGA2-AS1 (P929T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2275009	NM_181501.2(ITGA1):c.2828C>T (p.Pro943Leu)	ITGA1, ITGA2-AS1 (P943L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603805	NM_181501.2(ITGA1):c.2863T>C (p.Ser955Pro)	ITGA1, ITGA2-AS1 (S955P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456354	NM_181501.2(ITGA1):c.2887A>G (p.Ile963Val)	ITGA1, ITGA2-AS1 (I963V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524420	NM_181501.2(ITGA1):c.2897A>G (p.Asn966Ser)	ITGA1, ITGA2-AS1 (N966S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2237884	NM_181501.2(ITGA1):c.2901G>T (p.Glu967Asp)	ITGA1, ITGA2-AS1 (E967D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405136	NM_181501.2(ITGA1):c.2932G>A (p.Asp978Asn)	ITGA1, ITGA2-AS1 (D978N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111124	NM_181501.2(ITGA1):c.2941A>C (p.Asn981His)	ITGA1, ITGA2-AS1 (N981H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266190	NM_181501.2(ITGA1):c.3066G>C (p.Leu1022Phe)	ITGA1, ITGA2-AS1 (L1022F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111125	NM_181501.2(ITGA1):c.3085A>G (p.Asn1029Asp)	ITGA1, ITGA2-AS1 (N1029D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295993	NM_181501.2(ITGA1):c.3110A>T (p.Asp1037Val)	ITGA1, ITGA2-AS1 (D1037V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734714	NM_181501.2(ITGA1):c.3183C>T (p.Asp1061=)	ITGA1, ITGA2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2600012	NM_181501.2(ITGA1):c.3186C>G (p.Cys1062Trp)	ITGA1, ITGA2-AS1 (C1062W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725830	NM_181501.2(ITGA1):c.3288A>G (p.Ser1096=)	ITGA1, ITGA2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720666	NM_181501.2(ITGA1):c.3363C>A (p.Ser1121Arg)	ITGA1, ITGA2-AS1 (S1121R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2371310	NM_181501.2(ITGA1):c.3397A>G (p.Lys1133Glu)	ITGA1, ITGA2-AS1 (K1133E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623198	NM_181501.2(ITGA1):c.3508A>C (p.Lys1170Gln)	ITGA1, ITGA2-AS1 (K1170Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257685	NM_181501.2(ITGA1):c.3532G>A (p.Glu1178Lys)	ITGA1, ITGA2-AS1 (E1178K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	not provided +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

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Items: 40