TPM4[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 2499635	GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)	AKAP8, AKAP8L +105 more	Copy number loss	Chromosome 19p13.13 deletion syndrome	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 981823	NM_001145160.2(TPM4):c.59A>T (p.Asp20Val)	TPM4 (D20V)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2531672	NM_001145160.2(TPM4):c.104A>C (p.Lys35Thr)	TPM4 (K35T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335968	NM_001145160.2(TPM4):c.106T>G (p.Cys36Gly)	TPM4 (C36G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768977	NM_001145160.2(TPM4):c.123G>A (p.Glu41=)	TPM4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2319055	NM_001145160.2(TPM4):c.204G>C (p.Gln68His)	TPM4 (Q68H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181546	NM_001145160.2(TPM4):c.212T>A (p.Leu71Gln)	TPM4 (L55Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328293	NM_003290.3(TPM4):c.145G>A (p.Val49Met)	TPM4 (V46M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181547	NM_003290.3(TPM4):c.183G>C (p.Glu61Asp)	TPM4 (E97D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577545	NM_003290.3(TPM4):c.205C>T (p.Arg69Ter)	TPM4 (R105* +2 more)	Single nucleotide variant (nonsense)	Bleeding disorder, platelet-type, 25	GPathogenic
Select item 3181548	NM_003290.3(TPM4):c.206G>A (p.Arg69Gln)	TPM4 (R105Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334505	NM_003290.3(TPM4):c.272T>C (p.Met91Thr)	TPM4 (M111T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181549	NM_003290.3(TPM4):c.290G>A (p.Arg97Gln)	TPM4 (R94Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577544	NM_003290.3(TPM4):c.322C>T (p.Gln108Ter)	TPM4 (Q108* +3 more)	Single nucleotide variant (nonsense)	Bleeding disorder, platelet-type, 25	GPathogenic
Select item 2523495	NM_003290.3(TPM4):c.370C>T (p.Arg124Cys)	LOC130063846, TPM4 (R160C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577543	NM_003290.3(TPM4):c.436C>T (p.Arg146Cys)	TPM4 (R182C +3 more)	Single nucleotide variant (missense variant)	Bleeding disorder, platelet-type, 25	GPathogenic
Select item 2463223	NM_003290.3(TPM4):c.437G>T (p.Arg146Leu)	TPM4 (R143L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 988862	NM_003290.3(TPM4):c.440C>T (p.Ala147Val)	TPM4 (A144V +3 more)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 3328291	NM_003290.3(TPM4):c.518C>T (p.Ala173Val)	TPM4 (A173V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328292	NM_003290.3(TPM4):c.605G>A (p.Arg202His)	TPM4 (R202H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 2684888	GRCh37/hg19 19p13.12-13.11(chr19:16076374-16381932)x3	AP1M1, CIB3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 688090	GRCh37/hg19 19p13.12-13.11(chr19:15623742-16301544)x1	CIB3, CYP4F11 +15 more	Copy number loss	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442665	GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1	ANO8, ABHD8 +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 442476	GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1	ADGRE2, AKAP8 +45 more	Copy number loss	See cases	GPathogenic
Select item 424641	GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1	HSH2D, KLF2 +46 more	Copy number loss	not provided	GPathogenic

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Items: 36