Related gene-specific medical variations for Gene (Select 25914) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233385	NM_173630.4(RTTN):c.5746-20A>G	RTTN	Single nucleotide variant (intron variant)	MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES	GUncertain significance
Select item 3068180	NM_173630.4(RTTN):c.2255C>G (p.Pro752Arg)	RTTN (P752R)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephalic primordial dwarfism due to RTTN deficiency	GUncertain significance
Select item 3065589	NM_173630.4(RTTN):c.1918G>T (p.Glu640Ter)	RTTN (E640*)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephalic primordial dwarfism due to RTTN deficiency	GLikely pathogenic
Select item 3065088	NM_173630.4(RTTN):c.4426G>T (p.Ala1476Ser)	RTTN (A1476S +1 more)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to RTTN deficiency	GUncertain significance
Select item 2900559	NM_173630.4(RTTN):c.5457C>T (p.Cys1819=)	LOC126862785, RTTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887940	NM_173630.4(RTTN):c.5358G>C (p.Thr1786=)	LOC126862785, RTTN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2793404	NM_173630.4(RTTN):c.5541+17T>G	LOC126862785, RTTN	Single nucleotide variant (intron variant)	not provided	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 2442150	NM_173630.4(RTTN):c.478C>T (p.Arg160Ter)	RTTN (R160*)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephalic primordial dwarfism due to RTTN deficiency	GLikely pathogenic
Select item 2442067	NM_173630.4(RTTN):c.3373G>T (p.Ala1125Ser)	RTTN (A1125S +1 more)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to RTTN deficiency	GUncertain significance
Select item 2441768	NM_173630.4(RTTN):c.4032+5G>A	RTTN	Single nucleotide variant (intron variant)	Microcephalic primordial dwarfism due to RTTN deficiency	GLikely pathogenic
Select item 2435491	NM_173630.4(RTTN):c.223C>A (p.Pro75Thr)	RTTN (P75T)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephalic primordial dwarfism due to RTTN deficiency	GUncertain significance
Select item 2415271	NM_173630.4(RTTN):c.5324-9T>C	LOC126862785, RTTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2183513	NM_173630.4(RTTN):c.5533A>G (p.Ile1845Val)	LOC126862785, RTTN (I1845V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044253	NM_173630.4(RTTN):c.5450A>T (p.His1817Leu)	LOC126862785, RTTN (H1817L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2006478	NM_173630.4(RTTN):c.5461A>G (p.Ser1821Gly)	LOC126862785, RTTN (S1821G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700810	NM_173630.4(RTTN):c.5357C>T (p.Thr1786Met)	LOC126862785, RTTN (T1786M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684632	NM_173630.4(RTTN):c.4375-3963_4564+444del	RTTN	Deletion (splice acceptor variant +1 more)	See cases	GLikely pathogenic
Select item 1647094	NM_173630.4(RTTN):c.5460T>C (p.Cys1820=)	LOC126862785, RTTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1637558	NM_173630.4(RTTN):c.5409C>T (p.Thr1803=)	LOC126862785, RTTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1606627	NM_173630.4(RTTN):c.5415A>G (p.Glu1805=)	LOC126862785, RTTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1606625	NM_173630.4(RTTN):c.5418A>T (p.Ala1806=)	LOC126862785, RTTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1587997	NM_173630.4(RTTN):c.5454A>G (p.Leu1818=)	LOC126862785, RTTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1528740	NM_173630.4(RTTN):c.5535C>A (p.Ile1845=)	LOC126862785, RTTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1526639	GRCh37/hg19 18q22.2(chr18:67753977-67788395)	RTTN	Copy number loss	not specified	GUncertain significance
Select item 1526638	GRCh37/hg19 18q22.2(chr18:67653251-67708740)	RTTN	Copy number loss	not specified	GUncertain significance
Select item 1462282	NM_173630.4(RTTN):c.5507A>G (p.Lys1836Arg)	RTTN, LOC126862785 (K1836R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1444413	NM_173630.4(RTTN):c.5459G>A (p.Cys1820Tyr)	LOC126862785, RTTN (C1820Y +1 more)	Single nucleotide variant (missense variant)	not provided	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 1424864	NM_173630.4(RTTN):c.5456G>T (p.Cys1819Phe)	LOC126862785, RTTN (C1819F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1349288	NM_173630.4(RTTN):c.5410G>A (p.Glu1804Lys)	RTTN, LOC126862785 (E892K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1340072	GRCh37/hg19 18q22.2(chr18:67653252-67734826)x1	RTTN	Copy number loss	not provided	GUncertain significance
Select item 1329763	NM_173630.4(RTTN):c.5349G>C (p.Leu1783Phe)	LOC126862785, RTTN (L1783F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1325023	NM_173630.4(RTTN):c.5877G>A (p.Trp1959Ter)	RTTN (W1047* +1 more)	Single nucleotide variant (nonsense)	Microcephalic primordial dwarfism due to RTTN deficiency	GLikely pathogenic
Select item 1325022	NM_173630.4(RTTN):c.841+1G>A	RTTN	Single nucleotide variant (splice donor variant)	Microcephalic primordial dwarfism due to RTTN deficiency	GLikely pathogenic
Select item 1325021	NM_173630.4(RTTN):c.2174delG (p.Gly725fs)	RTTN (G725fs)	Deletion (splice acceptor variant +1 more)	Microcephalic primordial dwarfism due to RTTN deficiency	GLikely pathogenic
Select item 1323539	NM_173630.4(RTTN):c.3577C>T (p.Arg1193Ter)	RTTN (R1193* +1 more)	Single nucleotide variant (nonsense)	Microcephalic primordial dwarfism due to RTTN deficiency	GPathogenic
Select item 1217952	NM_173630.4(RTTN):c.5541+283C>G	LOC126862785, RTTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 931427	NM_173630.4(RTTN):c.1067T>C (p.Met356Thr)	RTTN (M356T)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephalic primordial dwarfism due to RTTN deficiency	GUncertain significance
Select item 930363	NM_173630.4(RTTN):c.29T>C (p.Leu10Pro)	RTTN (L10P)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephalic primordial dwarfism due to RTTN deficiency	GUncertain significance
Select item 871896	NM_173630.4(RTTN):c.6443C>A (p.Ala2148Asp)	RTTN (A2148D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 792917	NM_173630.4(RTTN):c.5493T>G (p.Ser1831=)	LOC126862785, RTTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723265	NM_173630.4(RTTN):c.5358G>A (p.Thr1786=)	LOC126862785, RTTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 678365	NM_173630.4(RTTN):c.5824-248A>G	LOC130062700, RTTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 635888	NC_000018.9:g.67742689_67765169dup	RTTN	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 591768	NM_173630.4(RTTN):c.2T>C (p.Met1Thr)	RTTN (M1T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 591745	NM_173630.4(RTTN):c.727_728insGAC (p.Asp243delinsGlyHis)	RTTN	Insertion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 591569	NM_173630.4(RTTN):c.2789-1G>C	RTTN	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 545043	NM_173630.4(RTTN):c.5469_5470del (p.Val1824fs)	LOC126862785, RTTN (V912fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 386468	NM_173630.4(RTTN):c.5541+16G>T	LOC126862785, RTTN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 373582	NM_173630.4(RTTN):c.5527G>C (p.Asp1843His)	LOC126862785, RTTN (D1843H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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Links from Gene

Items: 52