ClinVar for Gene (Select 3672) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305763	NM_015946.5(PELO):c.1132G>A (p.Gly378Ser)	ITGA1, PELO (G378S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305762	NM_015946.5(PELO):c.1094T>G (p.Ile365Ser)	ITGA1, PELO (I365S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305761	NM_015946.5(PELO):c.479G>C (p.Arg160Pro)	ITGA1, PELO (R160P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305760	NM_015946.5(PELO):c.1120T>C (p.Ser374Pro)	ITGA1, PELO (S374P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305759	NM_015946.5(PELO):c.278A>T (p.Tyr93Phe)	ITGA1, PELO +1 more (Y93F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286671	NM_181501.2(ITGA1):c.2552G>C (p.Ser851Thr)	ITGA1 (S851T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286670	NM_181501.2(ITGA1):c.260G>C (p.Gly87Ala)	ITGA1 (G87A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286669	NM_181501.2(ITGA1):c.445T>G (p.Ser149Ala)	ITGA1 (S149A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286668	NM_181501.2(ITGA1):c.1964G>A (p.Gly655Asp)	ITGA1 (G655D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286667	NM_181501.2(ITGA1):c.458C>G (p.Pro153Arg)	ITGA1 (P153R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286666	NM_181501.2(ITGA1):c.282G>T (p.Lys94Asn)	ITGA1 (K94N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286665	NM_181501.2(ITGA1):c.1643C>T (p.Thr548Met)	ITGA1 (T548M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286664	NM_181501.2(ITGA1):c.762A>G (p.Ile254Met)	ITGA1 (I254M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286663	NM_181501.2(ITGA1):c.1982T>A (p.Leu661His)	ITGA1 (L661H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286662	NM_181501.2(ITGA1):c.2426G>A (p.Gly809Glu)	ITGA1 (G809E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286661	NM_181501.2(ITGA1):c.146A>G (p.Tyr49Cys)	ITGA1 (Y49C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286660	NM_181501.2(ITGA1):c.2116G>C (p.Val706Leu)	ITGA1 (V706L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286659	NM_181501.2(ITGA1):c.1521T>G (p.Ile507Met)	ITGA1 (I507M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211386	NM_015946.5(PELO):c.843C>G (p.Phe281Leu)	ITGA1, PELO (F281L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211384	NM_015946.5(PELO):c.521A>C (p.Asn174Thr)	ITGA1, PELO (N174T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211383	NM_015946.5(PELO):c.176A>G (p.Asn59Ser)	ITGA1, PELO +1 more (N59S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211381	NM_015946.5(PELO):c.1027G>C (p.Val343Leu)	ITGA1, PELO (V343L)	Single nucleotide variant (missense variant +1 more)	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 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 3111123	NM_181501.2(ITGA1):c.242A>G (p.Lys81Arg)	ITGA1 (K81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111122	NM_181501.2(ITGA1):c.2252T>G (p.Val751Gly)	ITGA1 (V751G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111121	NM_181501.2(ITGA1):c.1966C>T (p.Leu656Phe)	ITGA1 (L656F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111120	NM_181501.2(ITGA1):c.1841G>C (p.Arg614Thr)	ITGA1 (R614T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111119	NM_181501.2(ITGA1):c.1709G>A (p.Arg570His)	ITGA1 (R570H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111118	NM_181501.2(ITGA1):c.1378A>G (p.Asn460Asp)	ITGA1 (N460D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111117	NM_181501.2(ITGA1):c.1176G>A (p.Met392Ile)	ITGA1 (M392I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062843	GRCh37/hg19 5q11.1-11.2(chr5:50270297-52235860)x1	ISL1, ITGA1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
Select item 2681339	NM_181501.2(ITGA1):c.242A>C (p.Lys81Thr)	ITGA1 (K81T)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
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 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 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 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 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 2598909	NM_181501.2(ITGA1):c.16C>A (p.Arg6Ser)	ITGA1, PELO +1 more (R6S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568719	NM_181501.2(ITGA1):c.443G>C (p.Cys148Ser)	ITGA1 (C148S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561148	NM_181501.2(ITGA1):c.2255G>A (p.Arg752Gln)	ITGA1 (R752Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552155	NM_181501.2(ITGA1):c.557G>C (p.Trp186Ser)	ITGA1 (W186S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544178	NM_015946.5(PELO):c.1153G>C (p.Asp385His)	ITGA1, PELO (D385H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541445	NM_015946.5(PELO):c.182T>C (p.Val61Ala)	ITGA1, PELO +1 more (V61A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539665	NM_181501.2(ITGA1):c.891T>G (p.Cys297Trp)	ITGA1 (C297W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536334	NM_015946.5(PELO):c.912A>C (p.Glu304Asp)	ITGA1, PELO (E304D)	Single nucleotide variant (missense variant +1 more)	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 2516421	NM_181501.2(ITGA1):c.652G>T (p.Val218Leu)	ITGA1 (V218L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507928	NM_181501.2(ITGA1):c.1895T>G (p.Phe632Cys)	ITGA1 (F632C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491043	NM_181501.2(ITGA1):c.625G>A (p.Val209Ile)	ITGA1 (V209I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483996	NM_015946.5(PELO):c.575C>A (p.Ala192Asp)	ITGA1, PELO (A192D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477780	NM_015946.5(PELO):c.794G>T (p.Arg265Leu)	ITGA1, PELO (R265L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465584	NM_181501.2(ITGA1):c.1541T>A (p.Met514Lys)	ITGA1 (M514K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462942	NM_015946.5(PELO):c.38C>T (p.Ala13Val)	ITGA1, PELO +1 more (A13V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461870	NM_015946.5(PELO):c.986A>G (p.Tyr329Cys)	ITGA1, PELO (Y329C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458202	NM_181501.2(ITGA1):c.1658G>A (p.Arg553Gln)	ITGA1 (R553Q)	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 2410524	NM_181501.2(ITGA1):c.70C>T (p.Arg24Cys)	ITGA1 (R24C)	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 2396099	NM_181501.2(ITGA1):c.1259C>T (p.Thr420Ile)	ITGA1 (T420I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2349422	NM_181501.2(ITGA1):c.2516T>A (p.Phe839Tyr)	ITGA1 (F839Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341901	NM_015946.5(PELO):c.577A>G (p.Ile193Val)	ITGA1, PELO (I193V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340012	NM_181501.2(ITGA1):c.658C>T (p.His220Tyr)	ITGA1 (H220Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326098	NM_181501.2(ITGA1):c.239A>G (p.Tyr80Cys)	ITGA1 (Y80C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319824	NM_181501.2(ITGA1):c.2327C>T (p.Thr776Met)	ITGA1 (T776M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310302	NM_015946.5(PELO):c.828A>T (p.Lys276Asn)	ITGA1, PELO (K276N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309362	NM_015946.5(PELO):c.850A>G (p.Met284Val)	ITGA1, PELO (M284V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307643	NM_015946.5(PELO):c.418G>C (p.Val140Leu)	ITGA1, PELO +1 more (V140L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305906	NM_015946.5(PELO):c.508A>C (p.Lys170Gln)	ITGA1, PELO (K170Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303784	NM_181501.2(ITGA1):c.2383C>A (p.Pro795Thr)	ITGA1 (P795T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303355	NM_015946.5(PELO):c.1081G>A (p.Gly361Arg)	ITGA1, PELO (G361R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302627	NM_181501.2(ITGA1):c.49T>C (p.Trp17Arg)	ITGA1, PELO +1 more (W17R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299755	NM_181501.2(ITGA1):c.1745A>G (p.Asn582Ser)	ITGA1 (N582S)	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 2295586	NM_015946.5(PELO):c.997G>C (p.Val333Leu)	ITGA1, PELO (V333L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291774	NM_181501.2(ITGA1):c.2579A>G (p.His860Arg)	ITGA1 (H860R)	Single nucleotide variant (missense variant)	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 2274028	NM_181501.2(ITGA1):c.2200C>G (p.Arg734Gly)	ITGA1 (R734G)	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 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 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 2235686	NM_181501.2(ITGA1):c.1196A>C (p.Tyr399Ser)	ITGA1 (Y399S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207165	NM_181501.2(ITGA1):c.2467G>A (p.Ala823Thr)	ITGA1 (A823T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 979674	GRCh37/hg19 5q11.1-11.2(chr5:49430268-53182665)x1	NDUFS4, MOCS2 +8 more	Copy number loss	not provided	GPathogenic
Select item 814686	GRCh37/hg19 5q11.2(chr5:52171297-52253656)x1	ITGA1	Copy number loss	not provided	GUncertain significance
Select item 778188	NM_181501.2(ITGA1):c.663G>A (p.Glu221=)	ITGA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 736955	NM_181501.2(ITGA1):c.472G>A (p.Val158Met)	ITGA1 (V158M)	Single nucleotide variant (missense variant)	not provided	GBenign
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 725830	NM_181501.2(ITGA1):c.3288A>G (p.Ser1096=)	ITGA1, ITGA2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725732	NM_181501.2(ITGA1):c.2211C>T (p.Phe737=)	ITGA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 721261	NM_181501.2(ITGA1):c.1455+7T>C	ITGA1	Single nucleotide variant (intron 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 713618	NM_181501.2(ITGA1):c.249A>G (p.Pro83=)	ITGA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686568	GRCh37/hg19 5q11.2(chr5:52053923-52680028)x3	ITGA1, ITGA2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 443292	GRCh37/hg19 5q11.2(chr5:50824656-53452371)x1	ARL15, FST +5 more	Copy number loss	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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