MADCAM1-AS1[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	ABCA7, ABHD17A +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	STK11, TCF3 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	LOC130062964, LOC130062965 +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	LOC130062905, LOC130062906 +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 2359322	NM_130760.3(MADCAM1):c.874C>G (p.Arg292Gly)	MADCAM1, MADCAM1-AS1 (R292G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290728	NM_130760.3(MADCAM1):c.902C>T (p.Thr301Met)	MADCAM1-AS1, MADCAM1 (T301M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353627	NM_130760.3(MADCAM1):c.958G>A (p.Ala320Thr)	MADCAM1-AS1, MADCAM1 (A233T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2319898	NM_130760.3(MADCAM1):c.997C>T (p.Leu333Phe)	MADCAM1, MADCAM1-AS1 (L246F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517476	NM_130760.3(MADCAM1):c.1037G>A (p.Arg346Gln)	MADCAM1, MADCAM1-AS1 (R370Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539119	NM_130760.3(MADCAM1):c.1116G>C (p.Arg372Ser)	MADCAM1, MADCAM1-AS1 (R372S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354012	NM_130760.3(MADCAM1):c.1123G>A (p.Gly375Ser)	MADCAM1, MADCAM1-AS1 (G288S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609185	NM_130760.3(MADCAM1):c.1128G>T (p.Gln376His)	MADCAM1, MADCAM1-AS1 (Q289H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263970	NM_033513.3(TPGS1):c.7G>A (p.Ala3Thr)	TPGS1, MADCAM1-AS1 (A3T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2352859	NM_033513.3(TPGS1):c.91G>A (p.Ala31Thr)	MADCAM1-AS1, TPGS1 (A31T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2365971	NM_033513.3(TPGS1):c.105G>C (p.Glu35Asp)	MADCAM1-AS1, TPGS1 (E35D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2607571	NM_033513.3(TPGS1):c.149C>T (p.Ala50Val)	MADCAM1-AS1, TPGS1 (A50V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279467	NM_033513.3(TPGS1):c.260C>T (p.Pro87Leu)	MADCAM1-AS1, TPGS1 (P87L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 24