"GeneDx"[submitter] AND "RNF213-AS1"[gene] - ClinVar

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Items: 35

	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 151581	GRCh38/hg38 17q25.3(chr17:80328106-80955527)x1	ENDOV, LOC101928855 +31 more	Copy number loss	See cases	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

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Items: 35