ClinVar for Gene (Select 83707) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329328	NM_001033678.4(TRPT1):c.211T>C (p.Ser71Pro)	TRPT1 (S71P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329327	NM_001033678.4(TRPT1):c.28G>A (p.Glu10Lys)	TRPT1 (E10K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329326	NM_001033678.4(TRPT1):c.544C>T (p.Pro182Ser)	TRPT1 (P184S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244550	NC_000011.9:g.(?_63731700)_(64572142_?)del	BAD, CATSPERZ +28 more	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3183459	NM_001033678.4(TRPT1):c.97A>C (p.Lys33Gln)	TRPT1 (K33Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183458	NM_001033678.4(TRPT1):c.726G>T (p.Lys242Asn)	TRPT1 (K242N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183457	NM_001033678.4(TRPT1):c.707A>T (p.Glu236Val)	TRPT1 (E150V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183456	NM_001033678.4(TRPT1):c.422T>C (p.Leu141Pro)	TRPT1 (L92P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183455	NM_001033678.4(TRPT1):c.392G>A (p.Gly131Asp)	TRPT1 (G131D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183453	NM_001033678.4(TRPT1):c.257G>A (p.Arg86Gln)	LOC130005916, TRPT1 (R86Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685408	GRCh37/hg19 11q13.1(chr11:63643711-64533636)x1	BAD, CATSPERZ +29 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2623861	NM_001033678.4(TRPT1):c.76G>A (p.Asp26Asn)	TRPT1 (D26N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621511	NM_001033678.4(TRPT1):c.506T>C (p.Met169Thr)	TRPT1 (M171T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515746	NM_001033678.4(TRPT1):c.327+4G>A	TRPT1 (G111R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2481348	NM_001033678.4(TRPT1):c.692G>A (p.Gly231Asp)	TRPT1 (G231D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457369	NM_001033678.4(TRPT1):c.578G>A (p.Arg193His)	TRPT1 (R193H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2401597	NM_001033678.4(TRPT1):c.377C>T (p.Pro126Leu)	TRPT1 (P128L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393979	NM_001033678.4(TRPT1):c.586A>G (p.Asn196Asp)	TRPT1 (N147D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259312	NM_001033678.4(TRPT1):c.46G>C (p.Gly16Arg)	TRPT1 (G16R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251167	NM_001033678.4(TRPT1):c.512C>T (p.Ser171Phe)	TRPT1 (S173F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248514	NM_001033678.4(TRPT1):c.292C>T (p.Leu98Phe)	TRPT1 (L98F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 634998	dup(11)(q13.1q13.1)	ATG2A, BAD +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 30