RNF31[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 685

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 154806	GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1	ADCY4, CARMIL3 +122 more	Copy number loss	See cases	GPathogenic
Select item 1946127	NM_017999.5(RNF31):c.4C>T (p.Pro2Ser)	LOC121468009, RNF31 (P2S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1447265	NM_017999.5(RNF31):c.5C>T (p.Pro2Leu)	LOC121468009, RNF31 (P2L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2799553	NM_017999.5(RNF31):c.8G>A (p.Gly3Glu)	LOC121468009, RNF31 (G3E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1965968	NM_017999.5(RNF31):c.15A>G (p.Glu5=)	LOC121468009, RNF31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1370234	NM_017999.5(RNF31):c.16G>A (p.Glu6Lys)	LOC121468009, RNF31 (E6K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2615533	NM_017999.5(RNF31):c.19G>A (p.Glu7Lys)	LOC121468009, RNF31 (E7K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1926168	NM_017999.5(RNF31):c.23G>C (p.Arg8Pro)	LOC121468009, RNF31 (R8P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1614669	NM_017999.5(RNF31):c.24G>A (p.Arg8=)	LOC121468009, RNF31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2986666	NM_017999.5(RNF31):c.30C>T (p.Phe10=)	LOC121468009, RNF31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2812523	NM_017999.5(RNF31):c.33G>T (p.Leu11=)	LOC121468009, RNF31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1433471	NM_017999.5(RNF31):c.34G>A (p.Val12Met)	RNF31, LOC121468009 (V12M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2127251	NM_017999.5(RNF31):c.43G>A (p.Glu15Lys)	LOC121468009, RNF31 (E15K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1431523	NM_017999.5(RNF31):c.44A>C (p.Glu15Ala)	LOC121468009, RNF31 (E15A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2971595	NM_017999.5(RNF31):c.52G>A (p.Ala18Thr)	LOC121468009, RNF31 (A18T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3000902	NM_017999.5(RNF31):c.56G>A (p.Ser19Asn)	LOC121468009, RNF31 (S19N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1490915	NM_017999.5(RNF31):c.58G>T (p.Ala20Ser)	LOC121468009, RNF31 (A20S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1356985	NM_017999.5(RNF31):c.58G>A (p.Ala20Thr)	LOC121468009, RNF31 (A20T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2900829	NM_017999.5(RNF31):c.59C>T (p.Ala20Val)	LOC121468009, RNF31 (A20V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2855714	NM_017999.5(RNF31):c.70del (p.Asp24fs)	RNF31 (D24fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1521457	NM_017999.5(RNF31):c.71A>G (p.Asp24Gly)	RNF31 (D24G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2977273	NM_017999.5(RNF31):c.74C>G (p.Ser25Cys)	RNF31 (S25C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2857874	NM_017999.5(RNF31):c.77G>C (p.Gly26Ala)	RNF31 (G26A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2838882	NM_017999.5(RNF31):c.82G>A (p.Ala28Thr)	RNF31 (A28T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2986779	NM_017999.5(RNF31):c.84G>A (p.Ala28=)	RNF31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3000873	NM_017999.5(RNF31):c.89C>G (p.Ser30Cys)	RNF31 (S30C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1555863	NM_017999.5(RNF31):c.90C>T (p.Ser30=)	RNF31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971251	NM_017999.5(RNF31):c.100C>T (p.Leu34Phe)	RNF31 (L34F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2010277	NM_017999.5(RNF31):c.108G>C (p.Pro36=)	RNF31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1580797	NM_017999.5(RNF31):c.108G>A (p.Pro36=)	RNF31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3005521	NM_017999.5(RNF31):c.114A>T (p.Leu38=)	RNF31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1347879	NM_017999.5(RNF31):c.122C>T (p.Ser41Phe)	RNF31 (S41F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2894135	NM_017999.5(RNF31):c.124C>T (p.Leu42=)	RNF31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2777003	NM_017999.5(RNF31):c.126G>A (p.Leu42=)	RNF31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1054336	NM_017999.5(RNF31):c.134C>T (p.Ala45Val)	RNF31 (A45V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2814166	NM_017999.5(RNF31):c.136G>T (p.Ala46Ser)	RNF31 (A46S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2102690	NM_017999.5(RNF31):c.156C>G (p.Asp52Glu)	RNF31 (D52E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1166407	NM_017999.5(RNF31):c.161C>T (p.Ala54Val)	RNF31 (A54V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1439317	NM_017999.5(RNF31):c.173G>A (p.Arg58His)	RNF31 (R58H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1376179	NM_017999.5(RNF31):c.174C>G (p.Arg58=)	RNF31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1426351	NM_017999.5(RNF31):c.179A>G (p.Asn60Ser)	RNF31 (N60S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2874987	NM_017999.5(RNF31):c.185A>T (p.His62Leu)	RNF31 (H62L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2081849	NM_017999.5(RNF31):c.192+5G>A	RNF31	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2964348	NM_017999.5(RNF31):c.192+9C>T	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1605302	NM_017999.5(RNF31):c.192+12C>T	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1944688	NM_017999.5(RNF31):c.192+13C>T	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918620	NM_017999.5(RNF31):c.192+14C>G	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1563568	NM_017999.5(RNF31):c.192+15C>T	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1152164	NM_017999.5(RNF31):c.193-20T>C	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646285	NM_017999.5(RNF31):c.193-14C>G	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1653118	NM_017999.5(RNF31):c.193-6T>C	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1439013	NM_017999.5(RNF31):c.193C>T (p.Pro65Ser)	RNF31 (P65S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2996574	NM_017999.5(RNF31):c.194C>T (p.Pro65Leu)	RNF31 (P65L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2092304	NM_017999.5(RNF31):c.197delinsCA (p.Arg66fs)	RNF31 (R66fs)	Indel (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2028729	NM_017999.5(RNF31):c.198A>C (p.Arg66=)	RNF31	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1386153	NM_017999.5(RNF31):c.201C>G (p.Asn67Lys)	RNF31 (N67K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3155398	NM_017999.5(RNF31):c.212C>T (p.Thr71Ile)	RNF31 (T71I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2109563	NM_017999.5(RNF31):c.212C>A (p.Thr71Asn)	RNF31 (T71N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1984379	NM_017999.5(RNF31):c.213C>T (p.Thr71=)	RNF31	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 203412	NM_017999.5(RNF31):c.215T>C (p.Leu72Pro)	RNF31 (L72P)	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency 115 with autoinflammation	GPathogenic
Select item 2995728	NM_017999.5(RNF31):c.216G>C (p.Leu72=)	RNF31	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1897179	NM_017999.5(RNF31):c.237G>A (p.Leu79=)	RNF31	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1165355	NM_017999.5(RNF31):c.246C>T (p.Tyr82=)	RNF31	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 2528930	NM_017999.5(RNF31):c.251G>T (p.Arg84Leu)	RNF31 (R84L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2969053	NM_017999.5(RNF31):c.261C>T (p.Leu87=)	RNF31	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1422694	NM_017999.5(RNF31):c.265C>T (p.Pro89Ser)	RNF31 (P89S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 2957613	NM_017999.5(RNF31):c.266C>T (p.Pro89Leu)	RNF31 (P89L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1537678	NM_017999.5(RNF31):c.267T>C (p.Pro89=)	RNF31	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3011727	NM_017999.5(RNF31):c.271C>T (p.Arg91Trp)	RNF31 (R91W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1628414	NM_017999.5(RNF31):c.276T>G (p.Pro92=)	RNF31	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1164357	NM_017999.5(RNF31):c.282C>T (p.Tyr94=)	RNF31	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2883181	NM_017999.5(RNF31):c.308C>A (p.Pro103His)	RNF31 (P103H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2729005	NM_017999.5(RNF31):c.311T>C (p.Val104Ala)	RNF31 (V104A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1501720	NM_017999.5(RNF31):c.317G>T (p.Arg106Leu)	RNF31 (R106L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 2694602	NM_017999.5(RNF31):c.339+13G>C	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2008605	NM_017999.5(RNF31):c.339+14C>T	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879136	NM_017999.5(RNF31):c.339+15C>T	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551387	NM_017999.5(RNF31):c.340-18C>T	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654564	NM_017999.5(RNF31):c.340-17G>T	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2123216	NM_017999.5(RNF31):c.340-9G>T	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958880	NM_017999.5(RNF31):c.340-6T>G	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2714923	NM_017999.5(RNF31):c.340-2del	RNF31	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 3002581	NM_017999.5(RNF31):c.352G>A (p.Val118Met)	RNF31 (V118M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1674745	NM_017999.5(RNF31):c.354G>T (p.Val118=)	RNF31	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1489875	NM_017999.5(RNF31):c.365A>G (p.Tyr122Cys)	RNF31 (Y122C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1556405	NM_017999.5(RNF31):c.369C>T (p.Gly123=)	RNF31	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3004675	NM_017999.5(RNF31):c.373A>G (p.Thr125Ala)	RNF31 (T125A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1489028	NM_017999.5(RNF31):c.374C>T (p.Thr125Ile)	RNF31 (T125I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2805283	NM_017999.5(RNF31):c.383A>G (p.Gln128Arg)	RNF31 (Q128R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2888940	NM_017999.5(RNF31):c.387A>G (p.Pro129=)	RNF31	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2828127	NM_017999.5(RNF31):c.402C>T (p.Phe134=)	RNF31	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2990863	NM_017999.5(RNF31):c.404C>T (p.Pro135Leu)	RNF31 (P135L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance

<< First< Prev

Page of 7