ClinVar for Gene (Select 9319) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358588	NM_004237.4(TRIP13):c.866+6del	TRIP13	Deletion (3 prime UTR variant +1 more)	TRIP13-related disorder	GLikely benign
Select item 3358469	NM_004237.4(TRIP13):c.92+7C>T	TRIP13	Single nucleotide variant (intron variant)	TRIP13-related disorder	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 3351015	NM_004237.4(TRIP13):c.515A>G (p.Asn172Ser)	TRIP13 (N172S)	Single nucleotide variant (missense variant)	TRIP13-related disorder	GUncertain significance
Select item 3329023	NM_004237.4(TRIP13):c.733G>A (p.Ala245Thr)	TRIP13 (A245T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246402	NC_000005.9:g.(?_893114)_(1272415_?)dup	NKD2, SLC12A7 +4 more	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 3182934	NM_004237.4(TRIP13):c.919G>A (p.Val307Met)	TRIP13 (V307M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182933	NM_004237.4(TRIP13):c.602C>T (p.Ser201Leu)	TRIP13 (S201L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3148940	GRCh37/hg19 5p15.33(chr5:113577-2191119)x1	AHRR, BRD9 +24 more	Copy number loss	See cases	GUncertain significance
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	MRPL36, MTRR +70 more	Copy number gain	not provided	GPathogenic
Select item 3148923	GRCh37/hg19 5p15.33-15.2(chr5:113577-13341742)x1	ADAMTS16, ADCY2 +49 more	Copy number loss	not provided	GPathogenic
Select item 3148886	GRCh37/hg19 5p15.33(chr5:403181-986695)x3	AHRR, BRD9 +8 more	Copy number gain	not provided	GUncertain significance
Select item 3062870	GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1	ADAMTS16, ADCY2 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062868	GRCh37/hg19 5p15.33-15.31(chr5:113576-7436985)x1	ADAMTS16, ADCY2 +35 more	Copy number loss	not specified	GPathogenic
Select item 3062864	GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062860	GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062835	GRCh37/hg19 5p15.33(chr5:113576-3612214)x1	AHRR, BRD9 +27 more	Copy number loss	not specified	GPathogenic
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
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 3058099	NM_004237.4(TRIP13):c.608+10G>A	TRIP13	Single nucleotide variant (intron variant)	TRIP13-related disorder	GLikely benign
Select item 3054360	NM_004237.4(TRIP13):c.1257C>T (p.Asp419=)	TRIP13	Single nucleotide variant (synonymous variant)	TRIP13-related disorder	GLikely benign
Select item 3049309	NM_004237.4(TRIP13):c.825C>T (p.Arg275=)	TRIP13	Single nucleotide variant (synonymous variant)	TRIP13-related disorder	GLikely benign
Select item 3045121	NM_004237.4(TRIP13):c.445-5A>G	TRIP13	Single nucleotide variant (intron variant)	TRIP13-related disorder	GLikely benign
Select item 3039276	NM_004237.4(TRIP13):c.778G>A (p.Ala260Thr)	TRIP13 (A260T)	Single nucleotide variant (missense variant)	TRIP13-related disorder	GUncertain significance
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 3030857	NM_004237.4(TRIP13):c.906C>T (p.Thr302=)	TRIP13	Single nucleotide variant (synonymous variant)	TRIP13-related disorder	GLikely benign
Select item 3023145	NM_004237.4(TRIP13):c.979A>G (p.Ile327Val)	TRIP13 (I327V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920393	NM_004237.4(TRIP13):c.1150A>G (p.Ser384Gly)	TRIP13 (S384G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2916708	NM_004237.4(TRIP13):c.804C>T (p.Thr268=)	TRIP13	Single nucleotide variant (synonymous variant)	not provided	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 2898842	NM_004237.4(TRIP13):c.1272G>A (p.Glu424=)	TRIP13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2844884	NM_004237.4(TRIP13):c.264C>T (p.Ile88=)	TRIP13	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2833506	NM_004237.4(TRIP13):c.1021-12_1021-11del	TRIP13	Deletion (intron variant)	not provided	GLikely benign
Select item 2819996	NM_004237.4(TRIP13):c.1039C>T (p.Arg347Cys)	TRIP13 (R347C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819203	NM_004237.4(TRIP13):c.92+11C>A	TRIP13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818724	NM_004237.4(TRIP13):c.759+17A>G	TRIP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2817509	NM_004237.4(TRIP13):c.92+6C>G	TRIP13	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2815018	NM_004237.4(TRIP13):c.1021-20C>T	TRIP13	Single nucleotide variant (intron variant)	not provided	GBenign
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 2768297	NM_004237.4(TRIP13):c.777C>T (p.Ala259=)	TRIP13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722543	NM_004237.4(TRIP13):c.732C>T (p.Asp244=)	TRIP13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2705875	NM_004237.4(TRIP13):c.1203G>A (p.Gln401=)	TRIP13	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2685145	GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685142	GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	ADAMTS16, ADCY2 +62 more	Copy number loss	not provided	GPathogenic
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685140	GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684404	GRCh37/hg19 5p15.33(chr5:676464-972978)x3	BRD9, TPPP +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 2655261	NM_004237.4(TRIP13):c.747G>A (p.Val249=)	TRIP13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636923	NM_004237.4(TRIP13):c.988A>G (p.Ile330Val)	TRIP13 (I330V)	Single nucleotide variant (missense variant)	TRIP13-related disorder	GUncertain significance
Select item 2636088	NM_004237.4(TRIP13):c.1136A>G (p.Lys379Arg)	TRIP13 (K379R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2619857	NM_004237.4(TRIP13):c.82C>A (p.Arg28Ser)	TRIP13 (R28S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2611192	NM_004237.4(TRIP13):c.1096G>A (p.Val366Met)	TRIP13 (V366M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608626	NM_004237.4(TRIP13):c.721G>A (p.Asp241Asn)	TRIP13 (D241N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2498967	NM_004237.4(TRIP13):c.1202A>G (p.Gln401Arg)	TRIP13 (Q401R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2487114	NM_004237.4(TRIP13):c.1220T>C (p.Ile407Thr)	TRIP13 (I407T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427644	NC_000005.9:g.(?_482643)_(1895829_?)del	BRD9, CEP72 +16 more	Deletion	Idiopathic Pulmonary Fibrosis +1 more	GPathogenic
Select item 2327857	NM_004237.4(TRIP13):c.1226G>A (p.Gly409Glu)	TRIP13 (G409E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283466	NM_004237.4(TRIP13):c.1294A>C (p.Ile432Leu)	TRIP13 (I432L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2239566	NM_004237.4(TRIP13):c.1060C>G (p.Arg354Gly)	TRIP13 (R354G)	Single nucleotide variant (missense variant)	not specified	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 1809293	GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1	ADAMTS16, ADCY2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1809200	GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not provided	GPathogenic
Select item 1808992	GRCh37/hg19 5p15.33(chr5:676464-1274326)x3	BRD9, NKD2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808602	GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not provided	GPathogenic
Select item 1807906	GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1	ADAMTS16, ADCY2 +71 more	Copy number loss	not provided	GPathogenic
Select item 1805254	NM_004237.4(TRIP13):c.759+1G>T	TRIP13	Single nucleotide variant (splice donor variant)	Mosaic variegated aneuploidy syndrome 3	GUncertain significance
Select item 1805147	NM_004237.4(TRIP13):c.1016T>C (p.Met339Thr)	TRIP13 (M339T)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 3	GUncertain significance
Select item 1711872	GRCh37/hg19 5p15.33(chr5:113576-2027194)x1	AHRR, BRD9 +24 more	Copy number loss	See cases	GPathogenic
Select item 1707436	GRCh37/hg19 5p15.33-15.31(chr5:113576-8007018)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	See cases	GPathogenic
Select item 1706484	GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic
Select item 1705881	GRCh37/hg19 5p15.33(chr5:26141-2537457)x3	EXOC3, AHRR +24 more	Copy number gain	Global developmental delay	GUncertain significance
Select item 1703686	GRCh37/hg19 5p15.33-15.2(chr5:113576-12601027)	ADAMTS16, ADCY2 +48 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 1703685	GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520)	ADAMTS16, ADCY2 +67 more	Copy number gain	5p partial monosomy syndrome	GPathogenic
Select item 1459245	NC_000005.9:g.(?_218471)_(1895829_?)del	LPCAT1, MRPL36 +21 more	Deletion	Parkinsonism-dystonia, infantile	GPathogenic
Select item 1341193	GRCh37/hg19 5p15.33(chr5:862397-1288682)x3	BRD9, NKD2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1340680	GRCh37/hg19 5p15.33(chr5:113577-2276310)x1	AHRR, BRD9 +24 more	Copy number loss	not provided	GUncertain significance
Select item 1340533	GRCh37/hg19 5p15.33-15.1(chr5:113577-16952167)x1	ADAMTS16, ADCY2 +60 more	Copy number loss	not provided	GPathogenic
Select item 1294506	NM_004237.4(TRIP13):c.867-197_867-196insGAG	TRIP13	Insertion (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 1290216	NM_004237.4(TRIP13):c.866+14G>A	TRIP13	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1288088	NM_004237.4(TRIP13):c.866+20A>G	TRIP13	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1287300	NM_004237.4(TRIP13):c.1204-17G>C	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 1281277	NM_004237.4(TRIP13):c.1134-61T>C	TRIP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280174	NM_004237.4(TRIP13):c.1133+243_1133+244insGT	TRIP13	Insertion (intron 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 1278855	NM_004237.4(TRIP13):c.388+74A>G	TRIP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278432	NM_004237.4(TRIP13):c.1204-233T>G	TRIP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277365	NM_004237.4(TRIP13):c.1134-112T>C	TRIP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276542	NM_004237.4(TRIP13):c.1133+144GT[12]	TRIP13	Microsatellite (intron variant)	not provided	GBenign
Select item 1276165	NM_004237.4(TRIP13):c.1204-148G>A	TRIP13	Single nucleotide variant (intron variant)	not provided	GBenign

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