6147[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 150948	GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3	ASPA, ATP2A3 +166 more	Copy number gain	See cases	GPathogenic
Select item 58677	GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3	ANKFY1, ASPA +126 more	Copy number gain	See cases	GPathogenic
Select item 155543	GRCh38/hg38 17p13.3-13.2(chr17:3168370-3852982)x3	ASPA, CTNS +47 more	Copy number gain	See cases	GLikely benign
Select item 153806	GRCh38/hg38 17p13.3-13.2(chr17:3168370-3862518)x3	ASPA, CAMKK1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 154726	GRCh38/hg38 17p13.3-13.2(chr17:3187406-3880628)x3	ASPA, CAMKK1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 583521	NC_000017.11:g.(?_3489235)_(3729555_?)del	EMC6, HASPIN +27 more	Deletion	not provided	GUncertain significance
Select item 150930	GRCh38/hg38 17p13.2(chr17:3494418-3727880)x1	ASPA, CTNS +27 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
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 2217535	NM_002208.5(ITGAE):c.3308T>A (p.Leu1103Gln)	ITGAE, P2RX5 (L1103Q)	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 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 2512104	NM_002208.5(ITGAE):c.3170G>A (p.Cys1057Tyr)	ITGAE, P2RX5 (C1057Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246290	NM_002208.5(ITGAE):c.3103T>C (p.Trp1035Arg)	ITGAE, P2RX5 (W1035R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606238	NM_031965.2(HASPIN):c.22C>T (p.Pro8Ser)	HASPIN, ITGAE (P8S)	Single nucleotide variant (missense variant +1 more)	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 2619346	NM_031965.2(HASPIN):c.56C>T (p.Ala19Val)	HASPIN, ITGAE (A19V)	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 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 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 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 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 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 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 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 2462131	NM_031965.2(HASPIN):c.299G>C (p.Arg100Pro)	HASPIN, ITGAE (R100P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516955	NM_031965.2(HASPIN):c.316C>T (p.Arg106Cys)	HASPIN, ITGAE (R106C)	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 2615257	NM_031965.2(HASPIN):c.401G>C (p.Arg134Pro)	HASPIN, ITGAE (R134P)	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 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 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 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 2599705	NM_031965.2(HASPIN):c.484C>G (p.Leu162Val)	HASPIN, ITGAE (L162V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 2604729	NM_031965.2(HASPIN):c.539C>G (p.Pro180Arg)	HASPIN, ITGAE (P180R)	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 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 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 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 2520557	NM_031965.2(HASPIN):c.733C>G (p.Leu245Val)	HASPIN, ITGAE (L245V)	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 2519731	NM_031965.2(HASPIN):c.746T>A (p.Met249Lys)	HASPIN, ITGAE (M249K)	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 2454874	NM_031965.2(HASPIN):c.781G>A (p.Ala261Thr)	HASPIN, ITGAE (A261T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 2590265	NM_031965.2(HASPIN):c.833G>A (p.Gly278Glu)	HASPIN, ITGAE (G278E)	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 2478405	NM_031965.2(HASPIN):c.938A>G (p.His313Arg)	HASPIN, ITGAE (H313R)	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 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 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 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 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 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 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 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 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 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 2510289	NM_031965.2(HASPIN):c.1462G>A (p.Glu488Lys)	HASPIN, ITGAE (E488K)	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 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 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 2536690	NM_031965.2(HASPIN):c.1734T>G (p.Asp578Glu)	HASPIN, ITGAE (D578E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493852	NM_031965.2(HASPIN):c.1765G>C (p.Asp589His)	HASPIN, ITGAE (D589H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491326	NM_031965.2(HASPIN):c.1801A>G (p.Ile601Val)	HASPIN, ITGAE (I601V)	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 2601145	NM_031965.2(HASPIN):c.1867G>A (p.Ala623Thr)	HASPIN, ITGAE (A623T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606237	NM_031965.2(HASPIN):c.1888C>T (p.His630Tyr)	HASPIN, ITGAE (H630Y)	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 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 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 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 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 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 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 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 3286777	NM_002208.5(ITGAE):c.3070C>G (p.Leu1024Val)	ITGAE (L1024V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239000	NM_002208.5(ITGAE):c.3031A>G (p.Thr1011Ala)	ITGAE (T1011A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389781	NM_002208.5(ITGAE):c.3025G>A (p.Val1009Ile)	ITGAE (V1009I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228384	NM_002208.5(ITGAE):c.2975A>G (p.His992Arg)	ITGAE (H992R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289190	NM_002208.5(ITGAE):c.2966T>A (p.Phe989Tyr)	ITGAE (F989Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555447	NM_002208.5(ITGAE):c.2929G>A (p.Val977Met)	ITGAE (V977M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3286789	NM_002208.5(ITGAE):c.2875C>A (p.Leu959Ile)	ITGAE (L959I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647237	NM_002208.5(ITGAE):c.2871C>T (p.His957=)	ITGAE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3286780	NM_002208.5(ITGAE):c.2792C>G (p.Ala931Gly)	ITGAE (A931G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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