ClinVar for Gene (Select 91978) - ClinVar

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Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3328272	NM_033513.3(TPGS1):c.553A>G (p.Thr185Ala)	TPGS1 (T185A)	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 3181528	NM_033513.3(TPGS1):c.644G>T (p.Arg215Leu)	TPGS1 (R215L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 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 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 2569866	NM_033513.3(TPGS1):c.667G>T (p.Asp223Tyr)	TPGS1 (D223Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2510268	NM_033513.3(TPGS1):c.782G>C (p.Gly261Ala)	TPGS1 (G261A)	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 2400354	NM_033513.3(TPGS1):c.371A>G (p.Tyr124Cys)	TPGS1 (Y124C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2366141	NM_033513.3(TPGS1):c.350A>G (p.Asn117Ser)	TPGS1 (N117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2365728	NM_033513.3(TPGS1):c.395G>C (p.Arg132Pro)	TPGS1 (R132P)	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 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 2349275	NM_033513.3(TPGS1):c.514G>C (p.Asp172His)	TPGS1 (D172H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2329649	NM_033513.3(TPGS1):c.548C>T (p.Ala183Val)	TPGS1 (A183V)	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 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 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 2256401	NM_033513.3(TPGS1):c.694A>T (p.Ser232Cys)	TPGS1 (S232C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 790194	NM_033513.3(TPGS1):c.39G>A (p.Pro13=)	MADCAM1-AS1, TPGS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778798	NM_033513.3(TPGS1):c.774C>T (p.Arg258=)	TPGS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769942	NM_033513.3(TPGS1):c.786G>A (p.Gly262=)	TPGS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 729206	NM_033513.3(TPGS1):c.432C>T (p.Ser144=)	TPGS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 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 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 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 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 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

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Links from Gene

Items: 76