ClinVar for Gene (Select 3682) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286790	NM_002208.5(ITGAE):c.1984G>A (p.Asp662Asn)	ITGAE (D662N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286789	NM_002208.5(ITGAE):c.2875C>A (p.Leu959Ile)	ITGAE (L959I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286788	NM_002208.5(ITGAE):c.2733C>G (p.His911Gln)	ITGAE (H911Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286787	NM_002208.5(ITGAE):c.3458A>T (p.Lys1153Ile)	ITGAE, P2RX5 (K1153I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286785	NM_002208.5(ITGAE):c.1573A>G (p.Met525Val)	ITGAE (M525V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286784	NM_002208.5(ITGAE):c.1306C>G (p.Arg436Gly)	ITGAE (R436G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286783	NM_002208.5(ITGAE):c.2884A>G (p.Arg962Gly)	ITGAE (R962G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286782	NM_002208.5(ITGAE):c.3249T>A (p.Asp1083Glu)	ITGAE, P2RX5 (D1083E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286781	NM_002208.5(ITGAE):c.2096G>A (p.Gly699Asp)	ITGAE (G699D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286780	NM_002208.5(ITGAE):c.2792C>G (p.Ala931Gly)	ITGAE (A931G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286779	NM_002208.5(ITGAE):c.493G>C (p.Gly165Arg)	ITGAE (G165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286778	NM_002208.5(ITGAE):c.1148G>A (p.Arg383Gln)	ITGAE (R383Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3286777	NM_002208.5(ITGAE):c.3070C>G (p.Leu1024Val)	ITGAE (L1024V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286775	NM_002208.5(ITGAE):c.2381C>T (p.Pro794Leu)	ITGAE (P794L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286774	NM_002208.5(ITGAE):c.1879G>A (p.Ala627Thr)	ITGAE (A627T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3286773	NM_002208.5(ITGAE):c.98G>T (p.Gly33Val)	ITGAE (G33V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286772	NM_002208.5(ITGAE):c.2683G>A (p.Asp895Asn)	ITGAE (D895N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286771	NM_002208.5(ITGAE):c.562A>G (p.Lys188Glu)	ITGAE (K188E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283514	NM_031965.2(HASPIN):c.23C>T (p.Pro8Leu)	HASPIN, ITGAE (P8L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283513	NM_031965.2(HASPIN):c.163G>C (p.Gly55Arg)	HASPIN, ITGAE (G55R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283512	NM_031965.2(HASPIN):c.2180A>C (p.Lys727Thr)	HASPIN, ITGAE (K727T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283511	NM_031965.2(HASPIN):c.869G>A (p.Gly290Asp)	HASPIN, ITGAE (G290D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283510	NM_031965.2(HASPIN):c.734T>C (p.Leu245Pro)	HASPIN, ITGAE (L245P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283509	NM_031965.2(HASPIN):c.443C>G (p.Pro148Arg)	HASPIN, ITGAE (P148R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283508	NM_031965.2(HASPIN):c.1267C>T (p.Arg423Trp)	HASPIN, ITGAE (R423W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3111344	NM_002208.5(ITGAE):c.899G>A (p.Arg300Lys)	ITGAE (R300K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111343	NM_002208.5(ITGAE):c.892G>A (p.Gly298Ser)	ITGAE (G298S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111342	NM_002208.5(ITGAE):c.812A>C (p.Asn271Thr)	ITGAE (N271T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111341	NM_002208.5(ITGAE):c.770G>A (p.Arg257Gln)	ITGAE (R257Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3111340	NM_002208.5(ITGAE):c.769C>T (p.Arg257Trp)	ITGAE (R257W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111339	NM_002208.5(ITGAE):c.533G>A (p.Arg178Gln)	ITGAE (R178Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111338	NM_002208.5(ITGAE):c.401G>A (p.Arg134His)	ITGAE (R134H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111337	NM_002208.5(ITGAE):c.3218C>T (p.Ser1073Phe)	ITGAE, P2RX5 (S1073F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111336	NM_002208.5(ITGAE):c.296G>A (p.Arg99Gln)	ITGAE (R99Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111335	NM_002208.5(ITGAE):c.2792C>T (p.Ala931Val)	ITGAE (A931V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111334	NM_002208.5(ITGAE):c.2723G>A (p.Arg908Lys)	ITGAE (R908K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3111333	NM_002208.5(ITGAE):c.2585G>T (p.Gly862Val)	ITGAE (G862V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111332	NM_002208.5(ITGAE):c.2456A>G (p.Tyr819Cys)	ITGAE (Y819C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111331	NM_002208.5(ITGAE):c.2383G>A (p.Glu795Lys)	ITGAE (E795K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111330	NM_002208.5(ITGAE):c.2239A>G (p.Ser747Gly)	ITGAE (S747G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111329	NM_002208.5(ITGAE):c.2233G>A (p.Val745Ile)	ITGAE (V745I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111328	NM_002208.5(ITGAE):c.2066C>A (p.Thr689Asn)	ITGAE (T689N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111327	NM_002208.5(ITGAE):c.2012C>T (p.Ala671Val)	ITGAE (A671V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111326	NM_002208.5(ITGAE):c.1975G>A (p.Gly659Ser)	ITGAE (G659S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111325	NM_002208.5(ITGAE):c.1952G>A (p.Gly651Asp)	ITGAE (G651D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111324	NM_002208.5(ITGAE):c.1727G>A (p.Arg576His)	ITGAE (R576H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111323	NM_002208.5(ITGAE):c.170G>T (p.Ser57Ile)	ITGAE (S57I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111322	NM_002208.5(ITGAE):c.1645T>C (p.Tyr549His)	ITGAE (Y549H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111321	NM_002208.5(ITGAE):c.1448A>G (p.Tyr483Cys)	ITGAE (Y483C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111320	NM_002208.5(ITGAE):c.136C>T (p.Pro46Ser)	ITGAE (P46S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3111319	NM_002208.5(ITGAE):c.1211T>C (p.Ile404Thr)	ITGAE (I404T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111318	NM_002208.5(ITGAE):c.1003G>A (p.Glu335Lys)	ITGAE (E335K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104311	NM_031965.2(HASPIN):c.989G>C (p.Arg330Thr)	HASPIN, ITGAE (R330T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104310	NM_031965.2(HASPIN):c.978G>C (p.Arg326Ser)	HASPIN, ITGAE (R326S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104309	NM_031965.2(HASPIN):c.826G>C (p.Val276Leu)	HASPIN, ITGAE (V276L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104307	NM_031965.2(HASPIN):c.818G>T (p.Arg273Met)	HASPIN, ITGAE (R273M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104306	NM_031965.2(HASPIN):c.766G>A (p.Asp256Asn)	HASPIN, ITGAE (D256N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104305	NM_031965.2(HASPIN):c.671C>G (p.Ala224Gly)	HASPIN, ITGAE (A224G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104304	NM_031965.2(HASPIN):c.663G>T (p.Gln221His)	HASPIN, ITGAE (Q221H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104303	NM_031965.2(HASPIN):c.586G>T (p.Val196Phe)	HASPIN, ITGAE (V196F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104302	NM_031965.2(HASPIN):c.575C>T (p.Ser192Phe)	HASPIN, ITGAE (S192F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104301	NM_031965.2(HASPIN):c.512C>G (p.Ser171Cys)	HASPIN, ITGAE (S171C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104300	NM_031965.2(HASPIN):c.507C>G (p.Phe169Leu)	HASPIN, ITGAE (F169L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104299	NM_031965.2(HASPIN):c.445G>C (p.Asp149His)	HASPIN, ITGAE (D149H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104298	NM_031965.2(HASPIN):c.428C>T (p.Ser143Phe)	HASPIN, ITGAE (S143F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104297	NM_031965.2(HASPIN):c.421C>G (p.Arg141Gly)	HASPIN, ITGAE (R141G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104296	NM_031965.2(HASPIN):c.371A>G (p.Gln124Arg)	HASPIN, ITGAE (Q124R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104294	NM_031965.2(HASPIN):c.297G>T (p.Lys99Asn)	HASPIN, ITGAE (K99N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104293	NM_031965.2(HASPIN):c.283A>G (p.Thr95Ala)	HASPIN, ITGAE (T95A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104292	NM_031965.2(HASPIN):c.2383A>G (p.Ser795Gly)	HASPIN, ITGAE (S795G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104291	NM_031965.2(HASPIN):c.2341A>G (p.Met781Val)	HASPIN, ITGAE (M781V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3104290	NM_031965.2(HASPIN):c.233G>A (p.Arg78Gln)	HASPIN, ITGAE (R78Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3104289	NM_031965.2(HASPIN):c.2227C>A (p.Leu743Ile)	HASPIN, ITGAE (L743I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104288	NM_031965.2(HASPIN):c.2119G>A (p.Asp707Asn)	HASPIN, ITGAE (D707N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104287	NM_031965.2(HASPIN):c.2116A>G (p.Met706Val)	HASPIN, ITGAE (M706V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104286	NM_031965.2(HASPIN):c.201C>A (p.Asp67Glu)	HASPIN, ITGAE (D67E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104285	NM_031965.2(HASPIN):c.1988A>G (p.Lys663Arg)	HASPIN, ITGAE (K663R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104284	NM_031965.2(HASPIN):c.1984C>T (p.Leu662Phe)	HASPIN, ITGAE (L662F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104283	NM_031965.2(HASPIN):c.1847G>A (p.Arg616Gln)	HASPIN, ITGAE (R616Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104282	NM_031965.2(HASPIN):c.179C>A (p.Ser60Tyr)	HASPIN, ITGAE (S60Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104281	NM_031965.2(HASPIN):c.1655G>A (p.Arg552His)	HASPIN, ITGAE (R552H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104280	NM_031965.2(HASPIN):c.1654C>T (p.Arg552Cys)	HASPIN, ITGAE (R552C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104279	NM_031965.2(HASPIN):c.1530A>G (p.Ile510Met)	HASPIN, ITGAE (I510M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104278	NM_031965.2(HASPIN):c.146G>A (p.Ser49Asn)	HASPIN, ITGAE (S49N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104277	NM_031965.2(HASPIN):c.1456C>G (p.Arg486Gly)	HASPIN, ITGAE (R486G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104276	NM_031965.2(HASPIN):c.1438C>T (p.Pro480Ser)	HASPIN, ITGAE (P480S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3104275	NM_031965.2(HASPIN):c.1357T>C (p.Ser453Pro)	HASPIN, ITGAE (S453P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104274	NM_031965.2(HASPIN):c.1315T>A (p.Ser439Thr)	HASPIN, ITGAE (S439T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104273	NM_031965.2(HASPIN):c.1292G>C (p.Gly431Ala)	HASPIN, ITGAE (G431A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104272	NM_031965.2(HASPIN):c.127T>G (p.Phe43Val)	HASPIN, ITGAE (F43V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104271	NM_031965.2(HASPIN):c.1268G>A (p.Arg423Gln)	HASPIN, ITGAE (R423Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104270	NM_031965.2(HASPIN):c.1145C>A (p.Thr382Asn)	HASPIN, ITGAE (T382N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2647241	NM_002208.5(ITGAE):c.1155C>T (p.Asn385=)	ITGAE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647240	NM_002208.5(ITGAE):c.1710C>T (p.Pro570=)	ITGAE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647239	NM_002208.5(ITGAE):c.2184G>A (p.Thr728=)	ITGAE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647238	NM_002208.5(ITGAE):c.2565C>T (p.Asn855=)	ITGAE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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