ClinVar for Gene (Select 9256) - ClinVar

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Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239159	NM_004758.4(TSPOAP1):c.2694T>G (p.Ala898=)	TSPOAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3183871	NM_004758.4(TSPOAP1):c.575G>A (p.Ser192Asn)	TSPOAP1, TSPOAP1-AS1 (S192N)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3183870	NM_004758.4(TSPOAP1):c.4616C>T (p.Pro1539Leu)	TSPOAP1 (P1479L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183869	NM_004758.4(TSPOAP1):c.2361G>T (p.Glu787Asp)	TSPOAP1 (E787D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183868	NM_004758.4(TSPOAP1):c.2263G>A (p.Gly755Arg)	TSPOAP1 (G755R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647960	NM_004758.4(TSPOAP1):c.2556C>T (p.Ala852=)	TSPOAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647959	NM_004758.4(TSPOAP1):c.4416T>C (p.Pro1472=)	TSPOAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647958	NM_004758.4(TSPOAP1):c.5247G>A (p.Gln1749=)	TSPOAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647957	NM_004758.4(TSPOAP1):c.5343C>T (p.Ser1781=)	TSPOAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635696	NM_004758.4(TSPOAP1):c.2213C>T (p.Ser738Leu)	TSPOAP1 (S678L +1 more)	Single nucleotide variant (missense variant)	TSPOAP1-related disorder	GUncertain significance
Select item 2575977	NM_004758.4(TSPOAP1):c.2277del (p.Ser759fs)	TSPOAP1 (S699fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2574618	NM_004758.4(TSPOAP1):c.5422G>A (p.Gly1808Ser)	TSPOAP1 (G1808S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574617	NM_004758.4(TSPOAP1):c.2449_2450inv (p.Gln817Ter)	TSPOAP1 (Q817* +1 more)	Inversion (nonsense)	Dystonia 22, juvenile-onset	GPathogenic
Select item 2574616	NM_004758.4(TSPOAP1):c.538del (p.Ala180fs)	TSPOAP1, TSPOAP1-AS1 (A180fs)	Deletion (frameshift variant)	Dystonia 22, juvenile-onset	GPathogenic
Select item 2500157	NM_004758.4(TSPOAP1):c.25C>T (p.Arg9Trp)	LOC130061278, TSPOAP1 +1 more (R9W)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2498299	NM_004758.4(TSPOAP1):c.1567C>T (p.Gln523Ter)	TSPOAP1 (Q463* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome	GPathogenic
Select item 2429783	NC_000017.10:g.(?_55806534)_(56540597_?)del	CUEDC1, DYNLL2 +14 more	Deletion	Neurodevelopmental delay +1 more	GPathogenic
Select item 2359187	NM_004758.4(TSPOAP1):c.348G>A (p.Met116Ile)	TSPOAP1, TSPOAP1-AS1 (M116I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344192	NM_004758.4(TSPOAP1):c.4433G>A (p.Arg1478His)	TSPOAP1 (R1418H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342973	NM_004758.4(TSPOAP1):c.4700C>T (p.Ala1567Val)	TSPOAP1 (A1507V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259777	NM_004758.4(TSPOAP1):c.4651C>T (p.Arg1551Cys)	TSPOAP1 (R1491C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258165	NM_004758.4(TSPOAP1):c.4276G>A (p.Glu1426Lys)	TSPOAP1 (E1366K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256038	NM_004758.4(TSPOAP1):c.2452G>A (p.Val818Met)	TSPOAP1 (V758M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254048	NM_004758.4(TSPOAP1):c.4922T>C (p.Met1641Thr)	TSPOAP1 (M1581T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246097	NM_004758.4(TSPOAP1):c.758C>T (p.Pro253Leu)	TSPOAP1 (P253L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210298	NM_004758.4(TSPOAP1):c.3404C>T (p.Pro1135Leu)	TSPOAP1 (P1075L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205686	NM_004758.4(TSPOAP1):c.4661C>G (p.Ala1554Gly)	TSPOAP1 (A1494G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710927	GRCh37/hg19 17q22(chr17:55043662-56728123)x1	LPO, MKS1 +21 more	Copy number loss	See cases	GPathogenic
Select item 1699366	NM_004758.4(TSPOAP1):c.1942G>T (p.Gly648Cys)	TSPOAP1 (G588C +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	AKAP1, APPBP2 +54 more	Duplication	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1342551	NM_004758.4(TSPOAP1):c.2179C>G (p.Leu727Val)	TSPOAP1 (L667V +1 more)	Single nucleotide variant (missense variant)	TSPOAP1-related Dystonia	GUncertain significance
Select item 1342548	NM_004758.4(TSPOAP1):c.4964G>A (p.Arg1655Gln)	TSPOAP1 (R1595Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1301779	NM_004758.4(TSPOAP1):c.2666G>A (p.Arg889Gln)	TSPOAP1 (R829Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1301778	NM_004758.4(TSPOAP1):c.2359G>A (p.Glu787Lys)	TSPOAP1 (E727K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1294164	NM_004758.4(TSPOAP1):c.4275A>T (p.Arg1425=)	TSPOAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1173103	NM_004758.4(TSPOAP1):c.1325G>A (p.Arg442Gln)	TSPOAP1 (R382Q +1 more)	Single nucleotide variant (missense variant)	Juvenile-onset progressive generalized dystonia +2 more	GUncertain significance
Select item 789898	NM_004758.4(TSPOAP1):c.4983+7G>A	TSPOAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 789660	NM_004758.4(TSPOAP1):c.5136T>C (p.Ile1712=)	TSPOAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781387	NM_004758.4(TSPOAP1):c.2517G>A (p.Ala839=)	TSPOAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781373	NM_004758.4(TSPOAP1):c.3470G>T (p.Gly1157Val)	TSPOAP1 (G1157V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777206	NM_004758.4(TSPOAP1):c.2930-3C>T	TSPOAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 774522	NM_004758.4(TSPOAP1):c.3911G>A (p.Cys1304Tyr)	TSPOAP1 (C1244Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 770271	NM_004758.4(TSPOAP1):c.1440G>C (p.Gln480His)	TSPOAP1 (Q420H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768901	NM_004758.4(TSPOAP1):c.4636C>T (p.Pro1546Ser)	TSPOAP1 (P1486S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 765153	NM_004758.4(TSPOAP1):c.1513G>A (p.Glu505Lys)	TSPOAP1 (E445K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 760903	NM_004758.4(TSPOAP1):c.2508G>T (p.Gly836=)	TSPOAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 760902	NM_004758.4(TSPOAP1):c.3900C>T (p.Pro1300=)	TSPOAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 757550	NM_004758.4(TSPOAP1):c.2760C>T (p.Cys920=)	TSPOAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732184	NM_004758.4(TSPOAP1):c.3999G>A (p.Pro1333=)	TSPOAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 731892	NM_004758.4(TSPOAP1):c.1212G>A (p.Ala404=)	TSPOAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725303	NM_004758.4(TSPOAP1):c.1495-8T>C	TSPOAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 718105	NM_004758.4(TSPOAP1):c.3361C>T (p.Pro1121Ser)	TSPOAP1 (P1061S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 714860	NM_004758.4(TSPOAP1):c.644G>T (p.Arg215Leu)	TSPOAP1, TSPOAP1-AS1 (R215L)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 713165	NM_004758.4(TSPOAP1):c.3758G>A (p.Arg1253His)	TSPOAP1 (R1193H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 402438	NM_004758.4(TSPOAP1):c.236G>A (p.Gly79Glu)	LOC130061277, TSPOAP1 +1 more (G79E)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 402437	NM_004758.4(TSPOAP1):c.3901G>A (p.Asp1301Asn)	TSPOAP1 (D1301N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394267	GRCh37/hg19 17q22(chr17:52189051-57477162)x3	AKAP1, ANKFN1 +42 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic
Select item 253345	GRCh37/hg19 17q22(chr17:55916829-56770618)x1	MKS1, DYNLL2 +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 66