TULP3[gene] and "single gene"[properties] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3184876	NM_003324.5(TULP3):c.55G>A (p.Glu19Lys)	TULP3 (E19K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1687116	NM_003324.5(TULP3):c.70C>T (p.Arg24Ter)	TULP3 (R24*)	Single nucleotide variant (nonsense)	Hepatorenocardiac degenerative fibrosis	GPathogenic
Select item 2324291	NM_003324.5(TULP3):c.135G>T (p.Glu45Asp)	TULP3 (E45D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241221	NM_003324.5(TULP3):c.146T>C (p.Val49Ala)	TULP3 (V49A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330282	NM_003324.5(TULP3):c.254G>T (p.Gly85Val)	TULP3 (G85V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552925	NM_003324.5(TULP3):c.290A>G (p.Glu97Gly)	TULP3 (E97G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184873	NM_003324.5(TULP3):c.319G>A (p.Val107Ile)	TULP3 (V107I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642575	NM_003324.5(TULP3):c.345C>G (p.Thr115=)	TULP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3184874	NM_003324.5(TULP3):c.349G>A (p.Asp117Asn)	TULP3 (D117N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265584	NM_003324.5(TULP3):c.380G>A (p.Arg127His)	TULP3 (R127H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224420	NM_003324.5(TULP3):c.428C>A (p.Thr143Asn)	TULP3 (T143N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330284	NM_003324.5(TULP3):c.478A>G (p.Ser160Gly)	TULP3 (S160G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184875	NM_003324.5(TULP3):c.506C>A (p.Ser169Tyr)	TULP3 (S169Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522326	NM_003324.5(TULP3):c.508G>A (p.Gly170Ser)	TULP3 (G170S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370434	NM_003324.5(TULP3):c.523G>A (p.Ala175Thr)	TULP3 (A175T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1687117	NM_003324.5(TULP3):c.544del (p.Leu182fs)	TULP3 (L182fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1687114	NM_003324.5(TULP3):c.612T>G (p.Cys204Trp)	TULP3 (C204W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554893	NM_003324.5(TULP3):c.643C>T (p.Arg215Trp)	TULP3 (R215W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230809	NM_003324.5(TULP3):c.644G>A (p.Arg215Gln)	TULP3 (R215Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224852	NM_003324.5(TULP3):c.703C>T (p.Leu235Phe)	TULP3 (L235F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184877	NM_003324.5(TULP3):c.805C>T (p.Leu269Phe)	TULP3 (L269F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444270	NM_003324.5(TULP3):c.809+2T>C	TULP3	Single nucleotide variant (splice donor variant)	Hepatorenocardiac degenerative fibrosis	GPathogenic
Select item 2308478	NM_003324.5(TULP3):c.847C>T (p.Arg283Cys)	TULP3 (R283C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388378	NM_003324.5(TULP3):c.871C>T (p.Arg291Trp)	TULP3 (R291W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492776	NM_003324.5(TULP3):c.875G>A (p.Gly292Asp)	TULP3 (G292D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784226	NM_003324.5(TULP3):c.887C>A (p.Ala296Glu)	TULP3 (A296E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2456321	NM_003324.5(TULP3):c.898C>T (p.Arg300Trp)	TULP3 (R300W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599638	NM_003324.5(TULP3):c.925G>C (p.Glu309Gln)	TULP3 (E309Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490431	NM_003324.5(TULP3):c.928A>G (p.Thr310Ala)	TULP3 (T310A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337361	NM_003324.5(TULP3):c.956G>A (p.Arg319Lys)	TULP3 (R319K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330285	NM_003324.5(TULP3):c.995A>G (p.His332Arg)	TULP3 (H332R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1687115	NM_003324.5(TULP3):c.1023+1G>A	TULP3	Single nucleotide variant (splice donor variant)	Hepatorenocardiac degenerative fibrosis	GPathogenic
Select item 2280011	NM_003324.5(TULP3):c.1024A>G (p.Asn342Asp)	TULP3 (N342D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2405592	NM_003324.5(TULP3):c.1099G>A (p.Val367Ile)	TULP3 (V367I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768504	NM_003324.5(TULP3):c.1139G>A (p.Arg380His)	TULP3 (R380H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1693114	NM_003324.5(TULP3):c.1144C>T (p.Arg382Trp)	TULP3 (R382W)	Single nucleotide variant (missense variant)	Hepatorenocardiac degenerative fibrosis	GPathogenic
Select item 3065833	NM_003324.5(TULP3):c.1145G>A (p.Arg382Gln)	TULP3 (R382Q)	Single nucleotide variant (missense variant)	Hepatorenocardiac degenerative fibrosis	GUncertain significance
Select item 2464071	NM_003324.5(TULP3):c.1157C>T (p.Ala386Val)	TULP3 (A386V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294330	NM_003324.5(TULP3):c.1210A>G (p.Met404Val)	TULP3 (M404V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1687118	NM_003324.5(TULP3):c.1223G>A (p.Arg408His)	TULP3 (R408H)	Single nucleotide variant (missense variant)	Hepatorenocardiac degenerative fibrosis	GPathogenic
Select item 2490999	NM_003324.5(TULP3):c.*1119G>C	TULP3 (C448S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3184872	NM_003324.5(TULP3):c.*1131G>A	TULP3 (R452H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2475044	NM_003324.5(TULP3):c.*1131G>T	TULP3 (R452L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 784227	NM_003324.5(TULP3):c.*1187G>T	TULP3 (G471*)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 2262656	NM_003324.5(TULP3):c.*1213G>C	TULP3 (Q479H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1687113	NM_003324.5:c.(41+1_42-1)_(696+1_697-1)del	TULP3	Deletion	Hepatorenocardiac degenerative fibrosis	GPathogenic

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Items: 46