TPGS1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57441	GRCh38/hg38 19p13.3(chr19:259395-819679)x3	BSG, BSG-AS1 +74 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 2263970	NM_033513.3(TPGS1):c.7G>A (p.Ala3Thr)	MADCAM1-AS1, TPGS1 (A3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790194	NM_033513.3(TPGS1):c.39G>A (p.Pro13=)	MADCAM1-AS1, TPGS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3328273	NM_033513.3(TPGS1):c.44C>A (p.Ala15Asp)	MADCAM1-AS1, TPGS1 (A15D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352859	NM_033513.3(TPGS1):c.91G>A (p.Ala31Thr)	MADCAM1-AS1, TPGS1 (A31T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365971	NM_033513.3(TPGS1):c.105G>C (p.Glu35Asp)	MADCAM1-AS1, TPGS1 (E35D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181524	NM_033513.3(TPGS1):c.119G>A (p.Arg40Gln)	MADCAM1-AS1, TPGS1 (R40Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733981	NM_033513.3(TPGS1):c.135G>A (p.Thr45=)	MADCAM1-AS1, TPGS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2559735	NM_033513.3(TPGS1):c.145C>T (p.Arg49Cys)	MADCAM1-AS1, TPGS1 (R49C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607571	NM_033513.3(TPGS1):c.149C>T (p.Ala50Val)	MADCAM1-AS1, TPGS1 (A50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181525	NM_033513.3(TPGS1):c.199C>G (p.Leu67Val)	MADCAM1-AS1, TPGS1 (L67V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279467	NM_033513.3(TPGS1):c.260C>T (p.Pro87Leu)	MADCAM1-AS1, TPGS1 (P87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181526	NM_033513.3(TPGS1):c.281A>G (p.Gln94Arg)	MADCAM1-AS1, TPGS1 (Q94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595412	NM_033513.3(TPGS1):c.343G>A (p.Ala115Thr)	TPGS1 (A115T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594118	NM_033513.3(TPGS1):c.346T>A (p.Phe116Ile)	TPGS1 (F116I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366141	NM_033513.3(TPGS1):c.350A>G (p.Asn117Ser)	TPGS1 (N117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324803	NM_033513.3(TPGS1):c.364G>T (p.Val122Leu)	TPGS1 (V122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400354	NM_033513.3(TPGS1):c.371A>G (p.Tyr124Cys)	TPGS1 (Y124C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365728	NM_033513.3(TPGS1):c.395G>C (p.Arg132Pro)	TPGS1 (R132P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510236	NM_033513.3(TPGS1):c.417C>G (p.Asp139Glu)	TPGS1 (D139E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729206	NM_033513.3(TPGS1):c.432C>T (p.Ser144=)	TPGS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3181527	NM_033513.3(TPGS1):c.445C>A (p.Arg149Ser)	TPGS1 (R149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349275	NM_033513.3(TPGS1):c.514G>C (p.Asp172His)	TPGS1 (D172H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329649	NM_033513.3(TPGS1):c.548C>T (p.Ala183Val)	TPGS1 (A183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328272	NM_033513.3(TPGS1):c.553A>G (p.Thr185Ala)	TPGS1 (T185A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181528	NM_033513.3(TPGS1):c.644G>T (p.Arg215Leu)	TPGS1 (R215L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328274	NM_033513.3(TPGS1):c.665T>C (p.Leu222Pro)	TPGS1 (L222P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181529	NM_033513.3(TPGS1):c.667G>A (p.Asp223Asn)	TPGS1 (D223N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569866	NM_033513.3(TPGS1):c.667G>T (p.Asp223Tyr)	TPGS1 (D223Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256401	NM_033513.3(TPGS1):c.694A>T (p.Ser232Cys)	TPGS1 (S232C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364077	NM_033513.3(TPGS1):c.734C>G (p.Ser245Trp)	TPGS1 (S245W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357434	NM_033513.3(TPGS1):c.769G>A (p.Asp257Asn)	TPGS1 (D257N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778798	NM_033513.3(TPGS1):c.774C>T (p.Arg258=)	TPGS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2510268	NM_033513.3(TPGS1):c.782G>C (p.Gly261Ala)	TPGS1 (G261A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769942	NM_033513.3(TPGS1):c.786G>A (p.Gly262=)	TPGS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2374553	NM_033513.3(TPGS1):c.790C>G (p.Arg264Gly)	TPGS1 (R264G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722147	NM_033513.3(TPGS1):c.791G>T (p.Arg264Leu)	TPGS1 (R264L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2334345	NM_033513.3(TPGS1):c.799G>A (p.Ala267Thr)	TPGS1 (A267T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062396	GRCh37/hg19 19p13.3(chr19:416230-548433)x1	CDC34, CIMAP1D +4 more	Copy number loss	not specified	GUncertain significance
Select item 3062384	GRCh37/hg19 19p13.3(chr19:260911-1210337)x1	ABCA7, ARHGAP45 +37 more	Copy number loss	not specified	GPathogenic
Select item 3062378	GRCh37/hg19 19p13.3(chr19:352288-1186507)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not specified	GUncertain significance
Select item 3024609	GRCh37/hg19 19p13.3(chr19:496500-590577)x3	BSG, CDC34 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685628	GRCh37/hg19 19p13.3(chr19:260912-548433)x1	C2CD4C, CDC34 +8 more	Copy number loss	not provided	GUncertain significance
Select item 2685627	GRCh37/hg19 19p13.3(chr19:260912-713630)x1	BSG, C2CD4C +16 more	Copy number loss	not provided	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 1809016	GRCh37/hg19 19p13.3(chr19:260912-538303)x3	C2CD4C, CDC34 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1807907	GRCh37/hg19 19p13.3(chr19:260912-508202)x1	C2CD4C, MADCAM1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1703549	GRCh37/hg19 19p13.3(chr19:260911-1319319)	ATP5F1D, ARHGAP45 +43 more	Copy number loss	Peutz-Jeghers syndrome	GPathogenic
Select item 1340343	GRCh37/hg19 19p13.3(chr19:352289-548433)x1	C2CD4C, CDC34 +6 more	Copy number loss	not provided	GLikely benign
Select item 980200	GRCh37/hg19 19p13.3(chr19:414714-713630)x3	ODF3L2, CDC34 +12 more	Copy number gain	not provided	GLikely benign
Select item 980199	GRCh37/hg19 19p13.3(chr19:352288-633755)x3	POLRMT, GZMM +9 more	Copy number gain	not provided	GLikely benign
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
Select item 688592	GRCh37/hg19 19p13.3(chr19:352288-515126)x3	C2CD4C, MADCAM1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	NDUFS7, OAZ1 +100 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 444854	GRCh37/hg19 19p13.3(chr19:266117-1094614)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not provided	GLikely pathogenic
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 442971	GRCh37/hg19 19p13.3(chr19:415092-715725)x3	ABCA7, ARHGAP45 +29 more	Copy number gain	See cases	GLikely benign
Select item 442900	GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	ABCA7, ABHD17A +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 395031	GRCh37/hg19 19p13.3(chr19:474645-508220)x3	CIMAP1D, MADCAM1 +1 more	Copy number gain	See cases	GBenign
Select item 395022	GRCh37/hg19 19p13.3(chr19:474645-519619)x3	CIMAP1D, MADCAM1 +1 more	Copy number gain	See cases	GLikely benign
Select item 394166	GRCh37/hg19 19p13.3(chr19:474645-509267)x3	CIMAP1D, MADCAM1 +1 more	Copy number gain	See cases	GBenign
Select item 393898	GRCh37/hg19 19p13.3(chr19:467701-519619)x3	CIMAP1D, MADCAM1 +1 more	Copy number gain	See cases	GLikely benign
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic
Select item 252977	GRCh37/hg19 19p13.3(chr19:260912-1163934)x3	ABCA7, ARHGAP45 +36 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 76