"Ambry Genetics"[submitter] AND "AGTPBP1"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2330249	NM_001330701.2(AGTPBP1):c.3670T>G (p.Tyr1224Asp)	AGTPBP1 (Y1236D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480888	NM_001330701.2(AGTPBP1):c.3640G>A (p.Val1214Ile)	AGTPBP1 (V1174I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1308441	NM_001330701.2(AGTPBP1):c.3527A>G (p.Glu1176Gly)	AGTPBP1 (E1136G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2295541	NM_001330701.2(AGTPBP1):c.3375G>C (p.Glu1125Asp)	AGTPBP1 (E1125D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407841	NM_001330701.2(AGTPBP1):c.3337T>G (p.Tyr1113Asp)	AGTPBP1 (Y1125D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325202	NM_001330701.2(AGTPBP1):c.3256C>T (p.Arg1086Cys)	AGTPBP1 (R1046C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227107	NM_001330701.2(AGTPBP1):c.3176A>G (p.Lys1059Arg)	AGTPBP1 (K1019R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374799	NM_001330701.2(AGTPBP1):c.2824C>T (p.Pro942Ser)	AGTPBP1 (P954S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384398	NM_001330701.2(AGTPBP1):c.2694_2695insTAT (p.Ser898_Asn899insTyr)	AGTPBP1	Insertion (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 2455059	NM_001330701.2(AGTPBP1):c.2433C>A (p.Phe811Leu)	AGTPBP1 (F811L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527005	NM_001330701.2(AGTPBP1):c.2422A>G (p.Lys808Glu)	AGTPBP1 (K860E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219344	NM_001330701.2(AGTPBP1):c.2359G>A (p.Val787Ile)	AGTPBP1 (V787I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595203	NM_001330701.2(AGTPBP1):c.2164C>T (p.Arg722Cys)	AGTPBP1 (R722C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275191	NM_001330701.2(AGTPBP1):c.2147T>A (p.Phe716Tyr)	AGTPBP1 (F716Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546366	NM_001330701.2(AGTPBP1):c.2072G>A (p.Arg691His)	AGTPBP1 (R703H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307967	NM_001330701.2(AGTPBP1):c.1880C>G (p.Pro627Arg)	AGTPBP1 (P627R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226392	NM_001330701.2(AGTPBP1):c.1846G>A (p.Val616Ile)	AGTPBP1 (V668I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311461	NM_001330701.2(AGTPBP1):c.1607G>A (p.Arg536Gln)	AGTPBP1 (R496Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308266	NM_001330701.2(AGTPBP1):c.1558A>G (p.Ile520Val)	AGTPBP1 (I480V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294925	NM_001330701.2(AGTPBP1):c.1364C>G (p.Pro455Arg)	AGTPBP1 (P455R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221369	NM_001330701.2(AGTPBP1):c.1360G>A (p.Gly454Ser)	AGTPBP1 (G454S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296956	NM_001330701.2(AGTPBP1):c.1201A>G (p.Thr401Ala)	AGTPBP1 (T401A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265773	NM_001330701.2(AGTPBP1):c.1077A>C (p.Leu359Phe)	AGTPBP1 (L319F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290084	NM_001330701.2(AGTPBP1):c.812G>T (p.Gly271Val)	AGTPBP1 (G271V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292135	NM_001330701.2(AGTPBP1):c.443A>C (p.Lys148Thr)	AGTPBP1 (K200T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372300	NM_001330701.2(AGTPBP1):c.397G>A (p.Val133Ile)	AGTPBP1 (V185I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2368147	NM_001330701.2(AGTPBP1):c.394A>G (p.Met132Val)	AGTPBP1 (M132V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404695	NM_001330701.2(AGTPBP1):c.304G>A (p.Val102Met)	AGTPBP1 (V102M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327268	NM_001330701.2(AGTPBP1):c.275A>G (p.Glu92Gly)	AGTPBP1 (E144G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228949	NM_001330701.2(AGTPBP1):c.38C>T (p.Thr13Ile)	AGTPBP1 (T65I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 30