TPH2[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	ATXN7L3B, BEST3 +141 more	Copy number loss	See cases	GLikely pathogenic
Select item 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +125 more	Copy number loss	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
Select item 310374	NM_173353.4(TPH2):c.-88G>T	TPH2	Single nucleotide variant (5 prime UTR variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 310375	NM_173353.4(TPH2):c.-82C>T	TPH2	Single nucleotide variant (5 prime UTR variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 310376	NM_173353.4(TPH2):c.-52A>G	TPH2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 310377	NM_173353.4(TPH2):c.-34C>G	TPH2	Single nucleotide variant (5 prime UTR variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 3181539	NM_173353.4(TPH2):c.37T>G (p.Trp13Gly)	TPH2 (W13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713133	NM_173353.4(TPH2):c.106C>G (p.Leu36Val)	TPH2 (L36V)	Single nucleotide variant (missense variant)	Tryptophan 5-monooxygenase deficiency +1 more	GBenign/Likely benign
Select item 881908	NM_173353.4(TPH2):c.107T>C (p.Leu36Pro)	TPH2 (L36P)	Single nucleotide variant (missense variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 310378	NM_173353.4(TPH2):c.122C>A (p.Ser41Tyr)	TPH2 (S41Y)	Single nucleotide variant (missense variant)	Tryptophan 5-monooxygenase deficiency +3 more	GLikely benign
Select item 310379	NM_173353.4(TPH2):c.256-12G>A	TPH2	Single nucleotide variant (intron variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 310380	NM_173353.4(TPH2):c.262C>T (p.Arg88Cys)	TPH2 (R88C)	Single nucleotide variant (missense variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 1049061	NM_173353.4(TPH2):c.299G>A (p.Arg100Gln)	TPH2 (R100Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2336766	NM_173353.4(TPH2):c.360T>G (p.Asn120Lys)	TPH2 (N120K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 881909	NM_173353.4(TPH2):c.396T>A (p.Ile132=)	TPH2	Single nucleotide variant (synonymous variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 310381	NM_173353.4(TPH2):c.413C>T (p.Pro138Leu)	TPH2 (P138L)	Single nucleotide variant (missense variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 310382	NM_173353.4(TPH2):c.439+9G>A	TPH2	Single nucleotide variant (intron variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 310383	NM_173353.4(TPH2):c.540A>G (p.Pro180=)	TPH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2262991	NM_173353.4(TPH2):c.555T>A (p.Asn185Lys)	TPH2 (N185K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 310384	NM_173353.4(TPH2):c.609-7T>C	TPH2	Single nucleotide variant (intron variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 3164	NM_173353.4(TPH2):c.616C>T (p.Pro206Ser)	TPH2 (P206S)	Single nucleotide variant (missense variant)	Major depressive disorder +2 more	GUncertain significance
Select item 736219	NM_173353.4(TPH2):c.636T>C (p.Tyr212=)	TPH2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 310385	NM_173353.4(TPH2):c.678G>A (p.Glu226=)	TPH2	Single nucleotide variant (synonymous variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 883082	NM_173353.4(TPH2):c.726C>T (p.Asn242=)	TPH2	Single nucleotide variant (synonymous variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 2483404	NM_173353.4(TPH2):c.872T>G (p.Leu291Arg)	TPH2 (L291R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163	NM_173353.4(TPH2):c.907C>T (p.Arg303Trp)	TPH2 (R303W)	Single nucleotide variant (missense variant)	Attention deficit-hyperactivity disorder, susceptibility to, 7	Grisk factor
Select item 310386	NM_173353.4(TPH2):c.936A>G (p.Pro312=)	TPH2	Single nucleotide variant (synonymous variant)	Tryptophan 5-monooxygenase deficiency +1 more	GBenign
Select item 1334076	NM_173353.4(TPH2):c.983C>G (p.Ala328Gly)	TPH2 (A328G)	Single nucleotide variant (missense variant)	Attention deficit-hyperactivity disorder, susceptibility to, 7	GUncertain significance
Select item 310387	NM_173353.4(TPH2):c.1050T>C (p.Asp350=)	TPH2	Single nucleotide variant (synonymous variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 310388	NM_173353.4(TPH2):c.1125A>T (p.Ala375=)	TPH2	Single nucleotide variant (synonymous variant)	Tryptophan 5-monooxygenase deficiency +1 more	GBenign
Select item 3328282	NM_173353.4(TPH2):c.1156G>C (p.Glu386Gln)	TPH2 (E386Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 883855	NM_173353.4(TPH2):c.1164+7A>G	TPH2	Single nucleotide variant (intron variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 310389	NM_173353.4(TPH2):c.1257C>T (p.Tyr419=)	TPH2	Single nucleotide variant (synonymous variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 883856	NM_173353.4(TPH2):c.1298+14T>C	TPH2	Single nucleotide variant (intron variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 3162	NM_173353.4(TPH2):c.1322G>A (p.Arg441His)	TPH2 (R441H)	Single nucleotide variant (missense variant)	Unipolar depression, susceptibility to	Grisk factor
Select item 3181538	NM_173353.4(TPH2):c.1343A>G (p.Asn448Ser)	TPH2 (N448S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 883857	NM_173353.4(TPH2):c.1411C>T (p.Arg471Cys)	TPH2 (R471C)	Single nucleotide variant (missense variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 883858	NM_173353.4(TPH2):c.1417G>A (p.Asp473Asn)	TPH2 (D473N)	Single nucleotide variant (missense variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 310390	NM_173353.4(TPH2):c.1444A>G (p.Asn482Asp)	TPH2 (N482D)	Single nucleotide variant (missense variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 310391	NM_173353.4(TPH2):c.*36T>G	TPH2	Single nucleotide variant (3 prime UTR variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 310392	NM_173353.4(TPH2):c.*149G>A	TPH2	Single nucleotide variant (3 prime UTR variant)	Tryptophan 5-monooxygenase deficiency +1 more	GLikely benign
Select item 310393	NM_173353.4(TPH2):c.189_192dup	TPH2	Duplication (3 prime UTR variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 880567	NM_173353.4(TPH2):c.*304C>T	TPH2	Single nucleotide variant (3 prime UTR variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 310394	NM_173353.4(TPH2):c.*325del	TPH2	Deletion (3 prime UTR variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 880568	NM_173353.4(TPH2):c.*365A>G	TPH2	Single nucleotide variant (3 prime UTR variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 310395	NM_173353.4(TPH2):c.*381dup	TPH2	Duplication (3 prime UTR variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 310396	NM_173353.4(TPH2):c.*424C>T	TPH2	Single nucleotide variant (3 prime UTR variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 880569	NM_173353.4(TPH2):c.*434G>A	TPH2	Single nucleotide variant (3 prime UTR variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 310397	NM_173353.4(TPH2):c.*479G>A	TPH2	Single nucleotide variant (3 prime UTR variant)	Tryptophan 5-monooxygenase deficiency +1 more	GBenign
Select item 880570	NM_173353.4(TPH2):c.*590A>G	TPH2	Single nucleotide variant (3 prime UTR variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 880571	NM_173353.4(TPH2):c.*650T>C	TPH2	Single nucleotide variant (3 prime UTR variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 310398	NM_173353.4(TPH2):c.*659C>T	TPH2	Single nucleotide variant (3 prime UTR variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 310399	NM_173353.4(TPH2):c.*660G>A	TPH2	Single nucleotide variant (3 prime UTR variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 310400	NM_173353.4(TPH2):c.*705G>A	TPH2	Single nucleotide variant (3 prime UTR variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 310401	NM_173353.4(TPH2):c.*731G>C	TPH2	Single nucleotide variant (3 prime UTR variant)	Tryptophan 5-monooxygenase deficiency	GUncertain significance
Select item 3063262	GRCh37/hg19 12q15-21.1(chr12:69498859-74073631)x1	BEST3, CCT2 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340527	GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1	TBC1D15, THAP2 +25 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 688046	GRCh37/hg19 12q15-21.1(chr12:71081550-73526446)x1	LGR5, PTPRR +8 more	Copy number loss	not provided	GUncertain significance
Select item 443535	GRCh37/hg19 12q15-21.1(chr12:70575476-73344659)x1	CNOT2, KCNMB4 +11 more	Copy number loss	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 65