RNF113A[gene] and "single gene"[properties] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1231981	NC_000023.11:g.119870442T>A	RNF113A	Single nucleotide variant	not provided	GBenign
Select item 1570966	NM_006978.3(RNF113A):c.1023C>T (p.Pro341=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1804317	NM_006978.3(RNF113A):c.1019T>G (p.Ile340Ser)	RNF113A (I340S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420176	NM_006978.3(RNF113A):c.1011G>A (p.Glu337=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 777317	NM_006978.3(RNF113A):c.1006G>A (p.Asp336Asn)	RNF113A (D336N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1358009	NM_006978.3(RNF113A):c.995C>T (p.Pro332Leu)	RNF113A (P332L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980539	NM_006978.3(RNF113A):c.993G>A (p.Leu331=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2632676	NM_006978.3(RNF113A):c.992T>G (p.Leu331Trp)	RNF113A (L331W)	Single nucleotide variant (missense variant)	RNF113A-related disorder	GUncertain significance
Select item 3314680	NM_006978.3(RNF113A):c.976G>T (p.Gly326Cys)	RNF113A (G326C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1921497	NM_006978.3(RNF113A):c.975G>T (p.Glu325Asp)	RNF113A (E325D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189549	NM_006978.3(RNF113A):c.964G>A (p.Ala322Thr)	RNF113A (A322T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911173	NM_006978.3(RNF113A):c.952G>A (p.Glu318Lys)	RNF113A (E318K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2036369	NM_006978.3(RNF113A):c.915C>T (p.Gly305=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2212054	NM_006978.3(RNF113A):c.911A>G (p.Asn304Ser)	RNF113A (N304S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 816875	NM_006978.3(RNF113A):c.903_910del (p.Gln302fs)	RNF113A (Q302fs)	Deletion (frameshift variant)	Trichothiodystrophy 5, nonphotosensitive	GUncertain significance
Select item 192382	NM_006978.3(RNF113A):c.901C>T (p.Gln301Ter)	RNF113A (Q301*)	Single nucleotide variant (nonsense)	Trichothiodystrophy 5, nonphotosensitive	GPathogenic
Select item 3003849	NM_006978.3(RNF113A):c.899A>T (p.Asp300Val)	RNF113A (D300V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872888	NM_006978.3(RNF113A):c.897_898del (p.Cys299_Asp300delinsTer)	RNF113A	Microsatellite (nonsense)	Trichothiodystrophy 5, nonphotosensitive	GPathogenic
Select item 2578338	NM_006978.3(RNF113A):c.890_891del (p.Tyr297fs)	RNF113A (Y297fs)	Deletion (frameshift variant)	Trichothiodystrophy 5, nonphotosensitive	GLikely pathogenic
Select item 3154949	NM_006978.3(RNF113A):c.881C>T (p.Pro294Leu)	RNF113A (P294L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618299	NM_006978.3(RNF113A):c.872G>A (p.Arg291His)	RNF113A (R291H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701072	NM_006978.3(RNF113A):c.861del (p.Gln288fs)	RNF113A (Q288fs)	Deletion (frameshift variant)	Abnormal cerebral morphology	GLikely pathogenic
Select item 1312234	NM_006978.3(RNF113A):c.860T>C (p.Leu287Pro)	RNF113A (L287P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2081494	NM_006978.3(RNF113A):c.855T>C (p.Cys285=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 420812	NM_006978.3(RNF113A):c.836A>G (p.His279Arg)	RNF113A (H279R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2721763	NM_006978.3(RNF113A):c.834G>A (p.Arg278=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1360400	NM_006978.3(RNF113A):c.817G>A (p.Val273Ile)	RNF113A (V273I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848367	NM_006978.3(RNF113A):c.816A>C (p.Pro272=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2893822	NM_006978.3(RNF113A):c.803G>C (p.Ser268Thr)	RNF113A (S268T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708020	NM_006978.3(RNF113A):c.801G>A (p.Gln267=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3154948	NM_006978.3(RNF113A):c.782A>G (p.Lys261Arg)	RNF113A (K261R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1026751	NM_006978.3(RNF113A):c.763G>A (p.Asp255Asn)	RNF113A (D255N)	Single nucleotide variant (missense variant)	See cases +1 more	GLikely benign
Select item 2100154	NM_006978.3(RNF113A):c.749A>G (p.Glu250Gly)	RNF113A (E250G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910706	NM_006978.3(RNF113A):c.740A>G (p.Glu247Gly)	RNF113A (E247G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1661750	NM_006978.3(RNF113A):c.735G>T (p.Glu245Asp)	RNF113A (E245D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 786396	NM_006978.3(RNF113A):c.725G>A (p.Gly242Asp)	RNF113A (G242D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1946285	NM_006978.3(RNF113A):c.682C>T (p.His228Tyr)	RNF113A (H228Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008047	NM_006978.3(RNF113A):c.681G>A (p.Lys227=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802701	NM_006978.3(RNF113A):c.633C>T (p.Cys211=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2031004	NM_006978.3(RNF113A):c.600C>T (p.Asp200=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2093823	NM_006978.3(RNF113A):c.597C>G (p.Pro199=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2107971	NM_006978.3(RNF113A):c.565C>T (p.Leu189=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2662605	NM_006978.3(RNF113A):c.562C>A (p.His188Asn)	RNF113A (H188N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784398	NM_006978.3(RNF113A):c.559G>A (p.Glu187Lys)	RNF113A (E187K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1155232	NM_006978.3(RNF113A):c.558C>G (p.Pro186=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972836	NM_006978.3(RNF113A):c.525C>T (p.Ser175=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2417356	NM_006978.3(RNF113A):c.508A>G (p.Met170Val)	RNF113A (M170V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1029121	NM_006978.3(RNF113A):c.484T>C (p.Tyr162His)	RNF113A (Y162H)	Single nucleotide variant (missense variant)	Trichothiodystrophy 5, nonphotosensitive	GUncertain significance
Select item 1505970	NM_006978.3(RNF113A):c.471C>A (p.Asn157Lys)	RNF113A (N157K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975328	NM_006978.3(RNF113A):c.466A>G (p.Ile156Val)	RNF113A (I156V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116515	NM_006978.3(RNF113A):c.453G>A (p.Lys151=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963291	NM_006978.3(RNF113A):c.452A>G (p.Lys151Arg)	RNF113A (K151R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126035	NM_006978.3(RNF113A):c.441GGA[1] (p.Glu148del)	RNF113A (E148del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3023888	NM_006978.3(RNF113A):c.445G>T (p.Asp149Tyr)	RNF113A (D149Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988126	NM_006978.3(RNF113A):c.445G>A (p.Asp149Asn)	RNF113A (D149N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476574	NM_006978.3(RNF113A):c.442G>C (p.Glu148Gln)	RNF113A (E148Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252467	NM_006978.3(RNF113A):c.424GAG[1] (p.Glu143del)	RNF113A (E143del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1671530	NM_006978.3(RNF113A):c.423G>A (p.Gln141=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2026876	NM_006978.3(RNF113A):c.420C>T (p.Ile140=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1932515	NM_006978.3(RNF113A):c.401T>C (p.Phe134Ser)	RNF113A (F134S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1647379	NM_006978.3(RNF113A):c.384C>T (p.Arg128=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2250062	NM_006978.3(RNF113A):c.382C>T (p.Arg128Cys)	RNF113A (R128C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2787449	NM_006978.3(RNF113A):c.375G>C (p.Glu125Asp)	RNF113A (E125D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1613139	NM_006978.3(RNF113A):c.373G>C (p.Glu125Gln)	RNF113A (E125Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2980769	NM_006978.3(RNF113A):c.371C>T (p.Thr124Ile)	RNF113A (T124I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814465	NM_006978.3(RNF113A):c.363G>A (p.Glu121=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2113464	NM_006978.3(RNF113A):c.357C>A (p.Val119=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792802	NM_006978.3(RNF113A):c.330A>C (p.Gly110=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023301	NM_006978.3(RNF113A):c.325G>A (p.Val109Met)	RNF113A (V109M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1483615	NM_006978.3(RNF113A):c.323C>G (p.Pro108Arg)	RNF113A (P108R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2421327	NM_006978.3(RNF113A):c.315G>C (p.Ser105=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1663687	NM_006978.3(RNF113A):c.285T>A (p.Ser95Arg)	RNF113A (S95R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1160737	NM_006978.3(RNF113A):c.279C>T (p.Pro93=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3154947	NM_006978.3(RNF113A):c.273T>G (p.Asn91Lys)	RNF113A (N91K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779484	NM_006978.3(RNF113A):c.264A>G (p.Glu88=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1480158	NM_006978.3(RNF113A):c.256G>C (p.Glu86Gln)	RNF113A (E86Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 91972	NM_006978.3(RNF113A):c.247T>A (p.Leu83Met)	RNF113A (L83M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347333	NM_006978.3(RNF113A):c.242_244del (p.Gly81del)	RNF113A (G81del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2696872	NM_006978.3(RNF113A):c.196A>G (p.Met66Val)	RNF113A (M66V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 79