9319[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 155265	GRCh38/hg38 5p15.33-15.32(chr5:22149-5102586)x1	AHRR, BRD9 +212 more	Copy number loss	See cases	GPathogenic
Select item 154955	GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1	LOC129993633, LOC129993634 +532 more	Copy number loss	See cases	GPathogenic
Select item 154951	GRCh38/hg38 5p15.33-15.32(chr5:22149-5059896)x1	AHRR, BRD9 +211 more	Copy number loss	See cases	GPathogenic
Select item 154867	GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1	LOC129993624, LOC129993625 +559 more	Copy number loss	See cases	GPathogenic
Select item 154579	GRCh38/hg38 5p15.33(chr5:22149-1659135)x3	LOC132089296, LOC132089297 +139 more	Copy number gain	See cases	GPathogenic
Select item 154578	GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1	ADAMTS16, ADAMTS16-DT +553 more	Copy number loss	See cases	GPathogenic
Select item 152721	GRCh38/hg38 5p15.33-15.32(chr5:22149-4833626)x1	AHRR, BRD9 +202 more	Copy number loss	See cases	GPathogenic
Select item 152692	GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1	LOC129993692, LOC129993693 +561 more	Copy number loss	See cases	GPathogenic
Select item 152423	GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1	ADAMTS16, ADAMTS16-DT +478 more	Copy number loss	See cases	GPathogenic
Select item 151165	GRCh38/hg38 5p15.33(chr5:22149-3619159)	AHRR, BRD9 +196 more	Copy number gain	See cases	GUncertain significance
Select item 150451	GRCh38/hg38 5p15.33(chr5:22149-2323943)x3	AHRR, BRD9 +172 more	Copy number gain	See cases	GPathogenic
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
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 149556	GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1	LOC126807323, LOC126807324 +530 more	Copy number loss	See cases	GPathogenic
Select item 149159	GRCh38/hg38 5p15.33-15.32(chr5:22149-6060102)x1	ADAMTS16, ADAMTS16-DT +231 more	Copy number loss	See cases	GPathogenic
Select item 149108	GRCh38/hg38 5p15.33(chr5:22149-946680)x1	AHRR, BRD9 +99 more	Copy number loss	See cases	GUncertain significance
Select item 149057	GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1	ADAMTS16, ADAMTS16-DT +537 more	Copy number loss	See cases	GPathogenic
Select item 149039	GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1	LOC132090721, LOC132090722 +556 more	Copy number loss	See cases	GPathogenic
Select item 148877	GRCh38/hg38 5p15.33(chr5:22149-4260151)x1	AHRR, BRD9 +199 more	Copy number loss	See cases	GPathogenic
Select item 148850	GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1	ADAMTS16, ADAMTS16-DT +384 more	Copy number loss	See cases	GPathogenic
Select item 148819	GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1	LOC126807286, LOC126807287 +384 more	Copy number loss	See cases	GPathogenic
Select item 148740	GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3	ADAMTS16, ADAMTS16-DT +542 more	Copy number gain	See cases	GPathogenic
Select item 148612	GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3	LOC108254683, LOC110120635 +559 more	Copy number gain	See cases	GPathogenic
Select item 148081	GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1	ADAMTS16, ADAMTS16-DT +561 more	Copy number loss	See cases	GPathogenic
Select item 147970	GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1	ADAMTS16, ADAMTS16-DT +559 more	Copy number loss	See cases	GPathogenic
Select item 147809	GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3	LOC112997550, LOC112997551 +462 more	Copy number gain	See cases	GPathogenic
Select item 147750	GRCh38/hg38 5p15.33(chr5:22149-1429599)x1	AHRR, BRD9 +127 more	Copy number loss	See cases	GPathogenic
Select item 147356	GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1	ADAMTS16, ADAMTS16-DT +473 more	Copy number loss	See cases	GPathogenic
Select item 146365	GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	ADAMTS16, ADAMTS16-DT +606 more	Copy number loss	See cases	GPathogenic
Select item 146067	GRCh38/hg38 5p15.33(chr5:22149-1278576)x3	LOC132089294, LOC132089295 +113 more	Copy number gain	See cases	GUncertain significance
Select item 145514	GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1	LOC126807328, LOC126807329 +559 more	Copy number loss	See cases	GPathogenic
Select item 144314	GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1	ADAMTS16, ADAMTS16-DT +388 more	Copy number loss	See cases	GPathogenic
Select item 144306	GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	ADAMTS16, ADAMTS16-DT +642 more	Copy number gain	See cases	GPathogenic
Select item 144286	GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1	LOC129993561, LOC129993562 +552 more	Copy number loss	See cases	GPathogenic
Select item 59573	GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1	ADAMTS16, ADAMTS16-DT +318 more	Copy number loss	See cases	GPathogenic
Select item 59557	GRCh38/hg38 5p15.33(chr5:22149-3556942)x1	AHRR, BRD9 +194 more	Copy number loss	See cases	GPathogenic
Select item 59556	GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1	LOC129993559, LOC129993560 +384 more	Copy number loss	See cases	GPathogenic
Select item 59555	GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1	ADAMTS16, ADAMTS16-DT +538 more	Copy number loss	See cases	GPathogenic
Select item 59554	GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1	ADAMTS16, ADAMTS16-DT +272 more	Copy number loss	See cases	GPathogenic
Select item 57221	GRCh38/hg38 5p15.33(chr5:22149-3404244)x1	AHRR, BRD9 +190 more	Copy number loss	See cases	GPathogenic
Select item 57057	GRCh38/hg38 5p15.33(chr5:22149-1826256)x1	AHRR, BRD9 +150 more	Copy number loss	See cases	GPathogenic
Select item 59576	GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1	LOC129993643, LOC129993644 +521 more	Copy number loss	See cases	GPathogenic
Select item 59578	GRCh38/hg38 5p15.33(chr5:37694-2913205)x1	LOC132090723, LOC132090724 +182 more	Copy number loss	See cases	GPathogenic
Select item 59577	GRCh38/hg38 5p15.33(chr5:37694-2746908)x1	AHRR, BRD9 +180 more	Copy number loss	See cases	GPathogenic
Select item 161034	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 146618	GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1	ADAMTS16, ADAMTS16-DT +574 more	Copy number loss	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 57400	GRCh38/hg38 5p15.33(chr5:49978-4014647)x1	AHRR, BRD9 +196 more	Copy number loss	See cases	GPathogenic
Select item 32815	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 59601	GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1	ADAMTS16, ADAMTS16-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 154630	GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1	ADAMTS16, ADAMTS16-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 154011	GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1	ADAMTS16, ADAMTS16-DT +443 more	Copy number loss	See cases	GPathogenic
Select item 153600	GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1	ADAMTS16, ADAMTS16-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 153553	GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1	ADAMTS16, ADAMTS16-DT +231 more	Copy number loss	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 57919	GRCh38/hg38 5p15.33(chr5:316478-937457)x3	AHRR, BRD9 +84 more	Copy number gain	See cases	GUncertain significance
Select item 148026	GRCh38/hg38 5p15.33(chr5:435846-981479)x3	AHRR, BRD9 +55 more	Copy number gain	See cases	GUncertain significance
Select item 148722	GRCh38/hg38 5p15.33(chr5:821764-1271935)x3	BRD9, LINC02982 +17 more	Copy number gain	See cases	GLikely benign
Select item 1266864	NC_000005.10:g.892722C>T	BRD9, TRIP13	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1241615	NC_000005.10:g.892731C>T	BRD9, TRIP13	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1279871	NC_000005.10:g.892754G>A	TRIP13, BRD9	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1249592	NC_000005.10:g.892840G>A	TRIP13	Single nucleotide variant	not provided	GBenign
Select item 3031748	NM_004237.4(TRIP13):c.51G>A (p.Glu17=)	TRIP13	Single nucleotide variant (synonymous variant)	TRIP13-related disorder	GLikely benign
Select item 977641	NM_004237.4(TRIP13):c.77A>G (p.His26Arg)	TRIP13 (H26R)	Single nucleotide variant (missense variant)	Oocyte maturation defect 9	GPathogenic
Select item 2619857	NM_004237.4(TRIP13):c.82C>A (p.Arg28Ser)	TRIP13 (R28S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2817509	NM_004237.4(TRIP13):c.92+6C>G	TRIP13	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3358469	NM_004237.4(TRIP13):c.92+7C>T	TRIP13	Single nucleotide variant (intron variant)	TRIP13-related disorder	GLikely benign
Select item 2819203	NM_004237.4(TRIP13):c.92+11C>A	TRIP13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806097	NM_004237.4(TRIP13):c.92+16C>G	TRIP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2801949	NM_004237.4(TRIP13):c.92+16C>T	TRIP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2768962	NM_004237.4(TRIP13):c.92+17C>T	TRIP13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235943	NM_004237.4(TRIP13):c.92+151C>G	TRIP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253535	NM_004237.4(TRIP13):c.92+220C>G	TRIP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 747571	NM_004237.4(TRIP13):c.123T>C (p.Ser41=)	TRIP13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3182932	NM_004237.4(TRIP13):c.223A>G (p.Ile75Val)	TRIP13 (I75V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2893946	NM_004237.4(TRIP13):c.244G>A (p.Val82Ile)	TRIP13 (V82I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1225568	NM_004237.4(TRIP13):c.258+48del	TRIP13	Deletion (intron variant)	Oocyte maturation defect 9 +2 more	GBenign
Select item 1272239	NM_004237.4(TRIP13):c.259-236C>T	TRIP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258939	NM_004237.4(TRIP13):c.259-123G>T	TRIP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282991	NM_004237.4(TRIP13):c.259-54C>G	TRIP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2844884	NM_004237.4(TRIP13):c.264C>T (p.Ile88=)	TRIP13	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2213522	NM_004237.4(TRIP13):c.275C>A (p.Ala92Glu)	TRIP13 (A92E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726741	NM_004237.4(TRIP13):c.277T>C (p.Cys93Arg)	TRIP13 (C93R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 746971	NM_004237.4(TRIP13):c.348A>G (p.Thr116=)	TRIP13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3356883	NM_004237.4(TRIP13):c.388G>A (p.Ala130Thr)	TRIP13 (A130T)	Single nucleotide variant (missense variant)	TRIP13-related disorder	GUncertain significance
Select item 1269357	NM_004237.4(TRIP13):c.388+73_388+74insG	TRIP13	Insertion (intron variant)	not provided	GBenign
Select item 1278855	NM_004237.4(TRIP13):c.388+74A>G	TRIP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2275737	NM_004237.4(TRIP13):c.421T>C (p.Tyr141His)	TRIP13 (Y141H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061491	NM_004237.4(TRIP13):c.423C>T (p.Tyr141=)	TRIP13	Single nucleotide variant (synonymous variant)	TRIP13-related disorder	GLikely benign
Select item 2900094	NM_004237.4(TRIP13):c.426T>C (p.Asp142=)	TRIP13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1223039	NM_004237.4(TRIP13):c.444+175T>C	TRIP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260158	NM_004237.4(TRIP13):c.444+216C>T	TRIP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294457	NM_004237.4(TRIP13):c.444+250G>A	TRIP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253912	NM_004237.4(TRIP13):c.445-33T>C	TRIP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3045121	NM_004237.4(TRIP13):c.445-5A>G	TRIP13	Single nucleotide variant (intron variant)	TRIP13-related disorder	GLikely benign
Select item 742921	NM_004237.4(TRIP13):c.510C>G (p.Thr170=)	TRIP13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3351015	NM_004237.4(TRIP13):c.515A>G (p.Asn172Ser)	TRIP13 (N172S)	Single nucleotide variant (missense variant)	TRIP13-related disorder	GUncertain significance

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