"Ambry Genetics"[submitter] AND "RTTN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2154818	NM_173630.4(RTTN):c.6658G>C (p.Val2220Leu)	RTTN (V1308L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1401602	NM_173630.4(RTTN):c.6627T>G (p.Asn2209Lys)	RTTN (N1297K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3315753	NM_173630.4(RTTN):c.6586G>T (p.Ala2196Ser)	RTTN (A1284S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541411	NM_173630.4(RTTN):c.6458G>A (p.Ser2153Asn)	RTTN (S1241N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248947	NM_173630.4(RTTN):c.6334A>G (p.Lys2112Glu)	RTTN (K1200E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2083977	NM_173630.4(RTTN):c.6312A>T (p.Leu2104Phe)	RTTN (L2104F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 427013	NM_173630.4(RTTN):c.6301T>C (p.Cys2101Arg)	RTTN (C2101R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2336923	NM_173630.4(RTTN):c.6290G>C (p.Arg2097Thr)	RTTN (R2097T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1345531	NM_173630.4(RTTN):c.6226A>T (p.Ile2076Phe)	RTTN (I2076F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 594649	NM_173630.4(RTTN):c.6189G>T (p.Leu2063Phe)	RTTN (L2063F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2396722	NM_173630.4(RTTN):c.6179C>T (p.Ser2060Phe)	RTTN (S1148F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157123	NM_173630.4(RTTN):c.6148C>G (p.Gln2050Glu)	RTTN (Q2050E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1927040	NM_173630.4(RTTN):c.6125C>T (p.Ser2042Leu)	RTTN (S2042L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 808404	NM_173630.4(RTTN):c.6080C>T (p.Thr2027Met)	RTTN (T1115M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3315760	NM_173630.4(RTTN):c.6038G>A (p.Cys2013Tyr)	RTTN (C1101Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1365255	NM_173630.4(RTTN):c.5962C>T (p.Leu1988Phe)	RTTN (L1988F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2269242	NM_173630.4(RTTN):c.5933C>T (p.Thr1978Ile)	RTTN (T1066I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 436606	NM_173630.4(RTTN):c.5916G>C (p.Gln1972His)	RTTN (Q1972H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2489660	NM_173630.4(RTTN):c.5909C>A (p.Ser1970Tyr)	RTTN (S1970Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330310	NM_173630.4(RTTN):c.5845C>A (p.Leu1949Ile)	RTTN (L1037I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1362890	NM_173630.4(RTTN):c.5810A>G (p.Asn1937Ser)	RTTN (N1025S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3157122	NM_173630.4(RTTN):c.5783A>G (p.Gln1928Arg)	RTTN (Q1928R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157121	NM_173630.4(RTTN):c.5773A>C (p.Ile1925Leu)	RTTN (I1013L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1521351	NM_173630.4(RTTN):c.5690A>T (p.Asn1897Ile)	RTTN (N1897I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2215070	NM_173630.4(RTTN):c.5638G>A (p.Ala1880Thr)	RTTN (A968T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1469147	NM_173630.4(RTTN):c.5626G>A (p.Ala1876Thr)	RTTN (A1876T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3315758	NM_173630.4(RTTN):c.5579G>C (p.Arg1860Thr)	RTTN (R1860T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321268	NM_173630.4(RTTN):c.5561C>T (p.Ser1854Phe)	RTTN (S942F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480599	NM_173630.4(RTTN):c.5546A>G (p.Tyr1849Cys)	RTTN (Y937C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1462282	NM_173630.4(RTTN):c.5507A>G (p.Lys1836Arg)	LOC126862785, RTTN (K1836R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1438510	NM_173630.4(RTTN):c.5500A>G (p.Asn1834Asp)	LOC126862785, RTTN (N1834D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2291448	NM_173630.4(RTTN):c.5470G>A (p.Val1824Met)	LOC126862785, RTTN (V1824M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2601571	NM_173630.4(RTTN):c.5330T>C (p.Phe1777Ser)	LOC126862785, RTTN (F1777S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1485608	NM_173630.4(RTTN):c.5315C>T (p.Ala1772Val)	RTTN (A1772V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2604596	NM_173630.4(RTTN):c.5269A>G (p.Ile1757Val)	RTTN (I845V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1328780	NM_173630.4(RTTN):c.5264G>C (p.Gly1755Ala)	RTTN (G1755A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2458426	NM_173630.4(RTTN):c.5209T>C (p.Tyr1737His)	RTTN (Y1737H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321040	NM_173630.4(RTTN):c.5165T>C (p.Ile1722Thr)	RTTN (I810T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 197052	NM_173630.4(RTTN):c.5143A>G (p.Asn1715Asp)	RTTN (N1715D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2193540	NM_173630.4(RTTN):c.5099C>T (p.Pro1700Leu)	RTTN (P1700L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2613920	NM_173630.4(RTTN):c.5003C>T (p.Ser1668Leu)	RTTN (S756L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1912974	NM_173630.4(RTTN):c.4910G>A (p.Arg1637Gln)	RTTN (R725Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2228669	NM_173630.4(RTTN):c.4906T>C (p.Phe1636Leu)	RTTN (F1636L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1333309	NM_173630.4(RTTN):c.4772G>A (p.Arg1591Gln)	RTTN (R1591Q +1 more)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to RTTN deficiency +2 more	GUncertain significance
Select item 2243052	NM_173630.4(RTTN):c.4751A>G (p.His1584Arg)	RTTN (H1584R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244307	NM_173630.4(RTTN):c.4733A>G (p.Gln1578Arg)	RTTN (Q1578R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157118	NM_173630.4(RTTN):c.4660C>A (p.Pro1554Thr)	RTTN (P642T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1448562	NM_173630.4(RTTN):c.4652C>A (p.Thr1551Lys)	RTTN (T1551K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3157117	NM_173630.4(RTTN):c.4616A>G (p.Asp1539Gly)	RTTN (D627G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3315750	NM_173630.4(RTTN):c.4551C>A (p.Ser1517Arg)	RTTN (S1517R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618806	NM_173630.4(RTTN):c.4546G>A (p.Glu1516Lys)	RTTN (E1516K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1032538	NM_173630.4(RTTN):c.4502G>A (p.Arg1501Gln)	RTTN (R589Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3157116	NM_173630.4(RTTN):c.4487A>G (p.His1496Arg)	RTTN (H1496R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157115	NM_173630.4(RTTN):c.4462G>A (p.Glu1488Lys)	RTTN (E576K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3315752	NM_173630.4(RTTN):c.4416T>G (p.Ile1472Met)	RTTN (I560M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157114	NM_173630.4(RTTN):c.4405C>G (p.Leu1469Val)	RTTN (L557V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1217108	NM_173630.4(RTTN):c.4360G>T (p.Asp1454Tyr)	RTTN (D1454Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1180409	NM_173630.4(RTTN):c.4253T>C (p.Val1418Ala)	RTTN (V1418A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2228779	NM_173630.4(RTTN):c.4225A>C (p.Asn1409His)	RTTN (N497H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2172920	NM_173630.4(RTTN):c.4190A>C (p.Glu1397Ala)	RTTN (E1397A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2238667	NM_173630.4(RTTN):c.4133G>A (p.Arg1378Gln)	RTTN (R1378Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227175	NM_173630.4(RTTN):c.4064G>A (p.Gly1355Asp)	RTTN (G443D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275843	NM_173630.4(RTTN):c.4014G>A (p.Met1338Ile)	RTTN (M1338I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1404508	NM_173630.4(RTTN):c.3929G>A (p.Arg1310His)	RTTN (R1310H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3157113	NM_173630.4(RTTN):c.3895C>T (p.Leu1299Phe)	RTTN (L1299F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1301190	NM_173630.4(RTTN):c.3850C>A (p.Pro1284Thr)	RTTN (P1284T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2277483	NM_173630.4(RTTN):c.3845A>G (p.His1282Arg)	RTTN (H370R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157112	NM_173630.4(RTTN):c.3743G>C (p.Cys1248Ser)	RTTN (C336S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287872	NM_173630.4(RTTN):c.3706G>A (p.Val1236Ile)	RTTN (V1236I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540441	NM_173630.4(RTTN):c.3669G>A (p.Met1223Ile)	RTTN (M1223I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1902077	NM_173630.4(RTTN):c.3662A>G (p.Asn1221Ser)	RTTN (N309S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2319879	NM_173630.4(RTTN):c.3574G>A (p.Ala1192Thr)	RTTN (A280T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2180331	NM_173630.4(RTTN):c.3559C>G (p.Leu1187Val)	RTTN (L1187V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2311271	NM_173630.4(RTTN):c.3470A>G (p.Gln1157Arg)	RTTN (Q1157R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1306143	NM_173630.4(RTTN):c.3436A>G (p.Ile1146Val)	RTTN (I1146V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3157111	NM_173630.4(RTTN):c.3430A>C (p.Ile1144Leu)	RTTN (I1144L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1476762	NM_173630.4(RTTN):c.3346A>G (p.Thr1116Ala)	RTTN (T1116A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3315757	NM_173630.4(RTTN):c.3328C>T (p.Pro1110Ser)	RTTN (P1110S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 732903	NM_173630.4(RTTN):c.3321G>C (p.Lys1107Asn)	RTTN (K1107N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1514781	NM_173630.4(RTTN):c.3259G>A (p.Glu1087Lys)	RTTN (E1087K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1376801	NM_173630.4(RTTN):c.3257G>C (p.Arg1086Thr)	RTTN (R1086T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1363950	NM_173630.4(RTTN):c.3238G>A (p.Val1080Ile)	RTTN (V168I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2287298	NM_173630.4(RTTN):c.3233C>A (p.Ser1078Tyr)	RTTN (S166Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262696	NM_173630.4(RTTN):c.3166T>C (p.Ser1056Pro)	RTTN (S1056P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 451795	NM_173630.4(RTTN):c.3137C>T (p.Thr1046Met)	RTTN (T1046M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1496584	NM_173630.4(RTTN):c.3115C>G (p.Gln1039Glu)	RTTN (Q127E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1356740	NM_173630.4(RTTN):c.3037G>A (p.Ala1013Thr)	RTTN (A101T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3315754	NM_173630.4(RTTN):c.3008T>C (p.Ile1003Thr)	RTTN (I1003T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 130174	NM_173630.4(RTTN):c.2990C>T (p.Ala997Val)	RTTN (A997V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2287753	NM_173630.4(RTTN):c.2954+6G>T	RTTN	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3315759	NM_173630.4(RTTN):c.2923G>A (p.Val975Ile)	RTTN (V975I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 212081	NM_173630.4(RTTN):c.2881A>G (p.Met961Val)	RTTN (M961V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2064907	NM_173630.4(RTTN):c.2821G>C (p.Val941Leu)	RTTN (V941L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2263401	NM_173630.4(RTTN):c.2807A>G (p.Glu936Gly)	RTTN (E936G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291447	NM_173630.4(RTTN):c.2806G>A (p.Glu936Lys)	RTTN (E24K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717188	NM_173630.4(RTTN):c.2804A>G (p.His935Arg)	RTTN (H935R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2322028	NM_173630.4(RTTN):c.2753C>T (p.Ser918Leu)	RTTN (S6L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1932137	NM_173630.4(RTTN):c.2716G>T (p.Val906Phe)	RTTN (V906F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2314348	NM_173630.4(RTTN):c.2692C>T (p.Pro898Ser)	RTTN (P898S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484268	NM_173630.4(RTTN):c.2575A>T (p.Met859Leu)	RTTN (M859L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance

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