"GeneDx"[submitter] AND "RNF213"[gene] - ClinVar

Search results

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 1262197	NM_001256071.3(RNF213):c.378G>A (p.Pro126=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1320732	NM_001256071.3(RNF213):c.440C>T (p.Pro147Leu)	RNF213 (P147L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1244935	NM_001256071.3(RNF213):c.453A>G (p.Pro151=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2580595	NM_001256071.3(RNF213):c.467C>T (p.Thr156Met)	RNF213 (T156M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662471	NM_001256071.3(RNF213):c.1166_1167del (p.Leu389fs)	RNF213 (L389fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 717067	NM_001256071.3(RNF213):c.1208GAG[2] (p.Gly405del)	RNF213 (G405del)	Microsatellite (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 1318827	NM_001256071.3(RNF213):c.1432C>T (p.Arg478Cys)	RNF213 (R478C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316632	NM_001256071.3(RNF213):c.1736T>C (p.Leu579Ser)	RNF213 (L579S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326208	NM_001256071.3(RNF213):c.1756-11C>A	RNF213	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239837	NM_001256071.3(RNF213):c.2186C>T (p.Pro729Leu)	RNF213 (P729L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1320356	NM_001256071.3(RNF213):c.2189T>G (p.Phe730Cys)	RNF213 (F730C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800910	NM_001256071.3(RNF213):c.2606C>A (p.Ala869Asp)	RNF213 (A869D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317088	NM_001256071.3(RNF213):c.2968A>G (p.Ser990Gly)	RNF213 (S990G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708929	NM_001256071.3(RNF213):c.2986G>A (p.Glu996Lys)	RNF213 (E1045K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275136	NM_001256071.3(RNF213):c.3024+77A>T	RNF213 (K1034M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 151581	GRCh38/hg38 17q25.3(chr17:80328106-80955527)x1	ENDOV, LOC101928855 +31 more	Copy number loss	See cases	GUncertain significance
Select item 1285971	NM_001256071.3(RNF213):c.3397C>A (p.Gln1133Lys)	RNF213 (Q1133K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1278102	NM_001256071.3(RNF213):c.3814G>C (p.Glu1272Gln)	RNF213 (E1272Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1183454	NM_001256071.3(RNF213):c.3992A>G (p.Asp1331Gly)	RNF213 (D1331G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1272394	NM_001256071.3(RNF213):c.4020C>G (p.Val1340=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1320372	NM_001256071.3(RNF213):c.4031A>G (p.Lys1344Arg)	RNF213 (K1344R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315900	NM_001256071.3(RNF213):c.4132_4133del (p.Leu1378fs)	RNF213 (L1378fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 769930	NM_001256071.3(RNF213):c.4146T>G (p.Thr1382=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3252859	NM_001256071.3(RNF213):c.4516C>T (p.Pro1506Ser)	RNF213 (P1506S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315620	NM_001256071.3(RNF213):c.5141C>T (p.Thr1714Ile)	RNF213 (T1714I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320961	NM_001256071.3(RNF213):c.5281A>G (p.Met1761Val)	RNF213 (M1761V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378115	NM_001256071.3(RNF213):c.5497G>A (p.Val1833Ile)	RNF213 (V1833I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449586	NM_001256071.3(RNF213):c.5515G>A (p.Glu1839Lys)	RNF213 (E1839K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 729821	NM_001256071.3(RNF213):c.5947C>T (p.Arg1983Trp)	RNF213 (R1983W)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3375574	NM_001256071.3(RNF213):c.5989G>A (p.Gly1997Arg)	RNF213 (G1997R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318504	NM_001256071.3(RNF213):c.6808T>A (p.Ser2270Thr)	RNF213 (S2270T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1230130	NM_001256071.3(RNF213):c.7001G>A (p.Ser2334Asn)	RNF213 (S2334N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1316956	NM_001256071.3(RNF213):c.7245_7250delinsCGTTAG (p.Ile2417Ser)	RNF213 (I2417S)	Indel (missense variant)	not provided	GUncertain significance
Select item 1275266	NM_001256071.3(RNF213):c.7245G>C (p.Pro2415=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3366115	NM_001256071.3(RNF213):c.7475C>T (p.Thr2492Met)	RNF213 (T2492M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450086	NM_001256071.3(RNF213):c.7602G>A (p.Met2534Ile)	RNF213 (M2534I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503169	NM_001256071.3(RNF213):c.8010C>G (p.Ser2670Arg)	RNF213 (S2670R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 731178	NM_001256071.3(RNF213):c.8110C>T (p.Arg2704Trp)	RNF213 (R2704W)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1707028	NM_001256071.3(RNF213):c.8179C>G (p.Arg2727Gly)	RNF213 (R2727G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320355	NM_001256071.3(RNF213):c.8203G>A (p.Gly2735Ser)	RNF213 (G2735S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365875	NM_001256071.3(RNF213):c.8284A>G (p.Lys2762Glu)	RNF213 (K2762E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503141	NM_001256071.3(RNF213):c.9656T>C (p.Ile3219Thr)	RNF213 (I3219T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317122	NM_001256071.3(RNF213):c.9712G>A (p.Gly3238Ser)	RNF213 (G3238S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878901	NM_001256071.3(RNF213):c.9934C>G (p.His3312Asp)	RNF213 (H3312D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575828	NM_001256071.3(RNF213):c.10034C>T (p.Thr3345Ile)	RNF213 (T3345I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504154	NM_001256071.3(RNF213):c.10424-5T>A	RNF213, RNF213-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 733381	NM_001256071.3(RNF213):c.10567G>A (p.Gly3523Arg)	RNF213, RNF213-AS1 (G3523R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1315698	NM_001256071.3(RNF213):c.10754G>A (p.Arg3585His)	RNF213, RNF213-AS1 (R3585H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1166734	NM_001256071.3(RNF213):c.10997T>C (p.Met3666Thr)	RNF213, RNF213-AS1 (M3666T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1318593	NM_001256071.3(RNF213):c.11540G>A (p.Trp3847Ter)	RNF213, RNF213-AS1 (W3847*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2571797	NM_001256071.3(RNF213):c.11695G>A (p.Asp3899Asn)	RNF213, RNF213-AS1 (D3899N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1220572	NM_001256071.3(RNF213):c.11744A>G (p.Glu3915Gly)	RNF213, RNF213-AS1 (E3915G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 417844	NM_001256071.3(RNF213):c.11779G>A (p.Ala3927Thr)	RNF213, RNF213-AS1 (A3927T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184843	NM_001256071.3(RNF213):c.11986_11989delinsGGGTTAG (p.Pro3996_Cys3997delinsGlyLeuGly)	RNF213, RNF213-AS1	Indel (inframe_indel)	not provided	GPathogenic
Select item 2497900	NM_001256071.3(RNF213):c.11987C>T (p.Pro3996Leu)	RNF213, RNF213-AS1 (P3996L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369413	NM_001256071.3(RNF213):c.12103T>C (p.Cys4035Arg)	RNF213, RNF213-AS1 (C4035R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 417851	NM_001256071.3(RNF213):c.12185G>A (p.Arg4062Gln)	RNF213, RNF213-AS1 (R4062Q)	Single nucleotide variant (missense variant)	Moyamoya disease 1 +1 more	GUncertain significance
Select item 1342041	NM_001256071.3(RNF213):c.12248C>T (p.Pro4083Leu)	RNF213, RNF213-AS1 (P4083L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691212	NM_001256071.3(RNF213):c.12266T>C (p.Ile4089Thr)	RNF213, RNF213-AS1 (I4089T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252942	NM_001256071.3(RNF213):c.12352T>C (p.Ser4118Pro)	RNF213, RNF213-AS1 (S4118P +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2575830	NM_001256071.3(RNF213):c.12527A>G (p.Asn4176Ser)	LOC126862663, RNF213 +1 more (N4176S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301288	NM_001256071.3(RNF213):c.12807G>A (p.Arg4269=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1231129	NM_001256071.3(RNF213):c.12847C>A (p.Leu4283Ile)	RNF213, RNF213-AS1 (L4283I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 503846	NM_001256071.3(RNF213):c.13150_13151delinsGT (p.Arg4384Val)	RNF213, RNF213-AS1 (R4384V)	Indel (missense variant)	not provided	GUncertain significance
Select item 1315768	NM_001256071.3(RNF213):c.13173_13178dup (p.Thr4393_Pro4394dup)	RNF213, RNF213-AS1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 417853	NM_001256071.3(RNF213):c.13195G>A (p.Ala4399Thr)	RNF213, RNF213-AS1 (A4399T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3373105	NM_001256071.3(RNF213):c.13415C>G (p.Pro4472Arg)	RNF213, RNF213-AS1 (P4472R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252931	NM_001256071.3(RNF213):c.13595T>A (p.Ile4532Asn)	RNF213, RNF213-AS1 (I4532N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499366	NM_001256071.3(RNF213):c.13631A>T (p.His4544Leu)	RNF213, RNF213-AS1 (H4544L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 39700	NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys)	RNF213, RNF213-AS1 (R4810K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1326584	NM_001256071.3(RNF213):c.14430A>C (p.Arg4810Ser)	RNF213, RNF213-AS1 (R4810S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318806	NM_001256071.3(RNF213):c.14587G>A (p.Asp4863Asn)	LOC126862664, RNF213 +1 more (D4863N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444524	NM_001256071.3(RNF213):c.14627T>G (p.Leu4876Arg)	LOC126862664, RNF213 +1 more (L4876R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 723725	NM_001256071.3(RNF213):c.14677G>C (p.Glu4893Gln)	LOC126862664, RNF213 +1 more (E4893Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1721339	NM_001256071.3(RNF213):c.14826G>C (p.Glu4942Asp)	RNF213, RNF213-AS1 (E4942D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369377	NM_001256071.3(RNF213):c.15118G>A (p.Gly5040Arg)	RNF213, RNF213-AS1 (G5040R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316062	NM_001256071.3(RNF213):c.15212A>G (p.Gln5071Arg)	RNF213, RNF213-AS1 (Q5071R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663733	NM_001256071.3(RNF213):c.15461C>T (p.Pro5154Leu)	RNF213, RNF213-AS1 (P5154L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360351	NM_001256071.3(RNF213):c.10850C>T (p.Ala3617Val)	RNF213 (A3617V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3360350	NM_001256071.3(RNF213):c.4054G>T (p.Ala1352Ser)	RNF213 (A1352S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359636	NM_001256071.3(RNF213):c.14292del (p.Val4765fs)	RNF213 (V4765fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance

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Items: 82