RIPOR3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 58973	GRCh38/hg38 20q13.13-13.2(chr20:49731076-51202566)x1	ADNP, ADNP-AS1 +124 more	Copy number loss	See cases	GPathogenic
Select item 59219	GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3	ADNP, ADNP-AS1 +199 more	Copy number gain	See cases	GPathogenic
Select item 148193	GRCh38/hg38 20q13.13-13.2(chr20:49989123-51495645)x1	ADNP, ADNP-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 2533207	NM_001290268.2(RIPOR3):c.2767T>A (p.Leu923Ile)	RIPOR3 (L919I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154676	NM_001290268.2(RIPOR3):c.2764C>T (p.Arg922Trp)	RIPOR3 (R922W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154675	NM_001290268.2(RIPOR3):c.2732G>A (p.Arg911Gln)	RIPOR3 (R911Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154674	NM_001290268.2(RIPOR3):c.2719C>T (p.Arg907Trp)	RIPOR3 (R903W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154673	NM_001290268.2(RIPOR3):c.2716G>T (p.Val906Leu)	RIPOR3 (V906L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154672	NM_001290268.2(RIPOR3):c.2716G>A (p.Val906Met)	RIPOR3 (V902M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154671	NM_001290268.2(RIPOR3):c.2710G>A (p.Glu904Lys)	RIPOR3 (E900K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458360	NM_001290268.2(RIPOR3):c.2617G>A (p.Ala873Thr)	RIPOR3 (A873T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314548	NM_001290268.2(RIPOR3):c.2596A>G (p.Asn866Asp)	RIPOR3 (N862D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2565130	NM_001290268.2(RIPOR3):c.2569C>T (p.Arg857Trp)	RIPOR3 (R853W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154670	NM_001290268.2(RIPOR3):c.2536C>T (p.Arg846Cys)	RIPOR3 (R842C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624405	NM_001290268.2(RIPOR3):c.2471C>T (p.Thr824Ile)	RIPOR3 (T824I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154669	NM_001290268.2(RIPOR3):c.2441G>A (p.Arg814Gln)	RIPOR3 (R810Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314547	NM_001290268.2(RIPOR3):c.2440C>T (p.Arg814Trp)	RIPOR3 (R810W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154668	NM_001290268.2(RIPOR3):c.2417T>G (p.Val806Gly)	RIPOR3 (V802G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606569	NM_001290268.2(RIPOR3):c.2417T>C (p.Val806Ala)	RIPOR3 (V802A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2507518	NM_001290268.2(RIPOR3):c.2402C>T (p.Ala801Val)	RIPOR3 (A797V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154667	NM_001290268.2(RIPOR3):c.2344G>A (p.Glu782Lys)	RIPOR3 (E778K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154666	NM_001290268.2(RIPOR3):c.2332G>A (p.Val778Ile)	RIPOR3 (V778I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154665	NM_001290268.2(RIPOR3):c.2272C>A (p.Leu758Ile)	RIPOR3 (L758I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154664	NM_001290268.2(RIPOR3):c.2260C>T (p.Pro754Ser)	RIPOR3 (P750S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475058	NM_001290268.2(RIPOR3):c.2219G>A (p.Arg740His)	RIPOR3 (R740H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154663	NM_001290268.2(RIPOR3):c.2218C>T (p.Arg740Cys)	RIPOR3 (R740C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454383	NM_001290268.2(RIPOR3):c.2141C>T (p.Thr714Met)	RIPOR3 (T714M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519462	NM_001290268.2(RIPOR3):c.2138C>T (p.Thr713Met)	RIPOR3 (T709M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314542	NM_001290268.2(RIPOR3):c.2108G>C (p.Gly703Ala)	RIPOR3 (G703A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518208	NM_001290268.2(RIPOR3):c.2042T>C (p.Ile681Thr)	RIPOR3 (I681T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154662	NM_001290268.2(RIPOR3):c.2000T>C (p.Leu667Pro)	RIPOR3 (L667P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154661	NM_001290268.2(RIPOR3):c.1987G>A (p.Val663Ile)	RIPOR3 (V659I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314553	NM_001290268.2(RIPOR3):c.1986C>G (p.His662Gln)	RIPOR3 (H662Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3154659	NM_001290268.2(RIPOR3):c.1927C>T (p.Pro643Ser)	RIPOR3 (P643S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154658	NM_001290268.2(RIPOR3):c.1903G>C (p.Ala635Pro)	RIPOR3 (A631P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602651	NM_001290268.2(RIPOR3):c.1852G>A (p.Gly618Ser)	RIPOR3 (G614S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154656	NM_001290268.2(RIPOR3):c.1829C>T (p.Ala610Val)	RIPOR3 (A610V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154655	NM_001290268.2(RIPOR3):c.1811C>A (p.Pro604Gln)	RIPOR3 (P604Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154654	NM_001290268.2(RIPOR3):c.1799G>A (p.Arg600Gln)	RIPOR3 (R600Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154653	NM_001290268.2(RIPOR3):c.1786C>T (p.Leu596Phe)	RIPOR3 (L592F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476370	NM_001290268.2(RIPOR3):c.1782G>C (p.Gln594His)	RIPOR3 (Q590H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154651	NM_001290268.2(RIPOR3):c.1700T>C (p.Leu567Pro)	RIPOR3 (L563P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154650	NM_001290268.2(RIPOR3):c.1589C>T (p.Pro530Leu)	RIPOR3 (P526L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465438	NM_001290268.2(RIPOR3):c.1543G>A (p.Val515Met)	RIPOR3 (V511M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154648	NM_001290268.2(RIPOR3):c.1499G>A (p.Gly500Asp)	RIPOR3 (G496D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154647	NM_001290268.2(RIPOR3):c.1498G>A (p.Gly500Ser)	RIPOR3 (G496S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154646	NM_001290268.2(RIPOR3):c.1494G>C (p.Gln498His)	RIPOR3 (Q494H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154645	NM_001290268.2(RIPOR3):c.1457G>T (p.Gly486Val)	RIPOR3 (G486V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596126	NM_001290268.2(RIPOR3):c.1445G>T (p.Ser482Ile)	RIPOR3 (S482I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596125	NM_001290268.2(RIPOR3):c.1444A>C (p.Ser482Arg)	RIPOR3 (S482R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154644	NM_001290268.2(RIPOR3):c.1439G>A (p.Ser480Asn)	RIPOR3 (S476N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154643	NM_001290268.2(RIPOR3):c.1432G>C (p.Gly478Arg)	RIPOR3 (G474R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596124	NM_001290268.2(RIPOR3):c.1432G>T (p.Gly478Trp)	RIPOR3 (G478W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154642	NM_001290268.2(RIPOR3):c.1383C>A (p.His461Gln)	RIPOR3 (H461Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154641	NM_001290268.2(RIPOR3):c.1345G>C (p.Asp449His)	RIPOR3 (D449H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525248	NM_001290268.2(RIPOR3):c.1309G>A (p.Gly437Ser)	RIPOR3 (G433S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154639	NM_001290268.2(RIPOR3):c.1303A>G (p.Thr435Ala)	RIPOR3 (T431A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3154638	NM_001290268.2(RIPOR3):c.1253C>T (p.Thr418Met)	RIPOR3 (T418M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154637	NM_001290268.2(RIPOR3):c.1221G>A (p.Met407Ile)	RIPOR3 (M407I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652395	NM_001290268.2(RIPOR3):c.1215T>C (p.Pro405=)	RIPOR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3154636	NM_001290268.2(RIPOR3):c.1178G>A (p.Arg393Gln)	RIPOR3 (R389Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3154635	NM_001290268.2(RIPOR3):c.1171G>A (p.Asp391Asn)	RIPOR3 (D387N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154634	NM_001290268.2(RIPOR3):c.1126G>A (p.Gly376Ser)	RIPOR3 (G376S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154633	NM_001290268.2(RIPOR3):c.1070G>A (p.Arg357Gln)	RIPOR3 (R357Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154632	NM_001290268.2(RIPOR3):c.1052C>T (p.Pro351Leu)	RIPOR3 (P347L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593949	NM_001290268.2(RIPOR3):c.998C>T (p.Thr333Met)	RIPOR3 (T329M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154701	NM_001290268.2(RIPOR3):c.972G>C (p.Glu324Asp)	RIPOR3 (E320D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652396	NM_001290268.2(RIPOR3):c.965A>G (p.Asp322Gly)	RIPOR3 (D318G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3154699	NM_001290268.2(RIPOR3):c.920T>G (p.Leu307Trp)	RIPOR3 (L303W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314552	NM_001290268.2(RIPOR3):c.914C>T (p.Thr305Met)	RIPOR3 (T305M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154698	NM_001290268.2(RIPOR3):c.904G>A (p.Val302Met)	RIPOR3 (V298M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154697	NM_001290268.2(RIPOR3):c.901G>A (p.Val301Met)	RIPOR3 (V297M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616361	NM_001290268.2(RIPOR3):c.899T>G (p.Ile300Ser)	RIPOR3 (I300S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314554	NM_001290268.2(RIPOR3):c.893A>G (p.Gln298Arg)	RIPOR3 (Q298R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154696	NM_001290268.2(RIPOR3):c.886C>T (p.Arg296Trp)	RIPOR3 (R292W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623071	NM_001290268.2(RIPOR3):c.884C>G (p.Thr295Arg)	RIPOR3 (T291R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515010	NM_001290268.2(RIPOR3):c.884C>T (p.Thr295Met)	RIPOR3 (T291M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470332	NM_001290268.2(RIPOR3):c.836C>T (p.Ser279Leu)	RIPOR3 (S275L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314555	NM_001290268.2(RIPOR3):c.829C>G (p.Leu277Val)	RIPOR3 (L273V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154694	NM_001290268.2(RIPOR3):c.824G>A (p.Arg275Gln)	RIPOR3 (R271Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154693	NM_001290268.2(RIPOR3):c.802G>T (p.Asp268Tyr)	RIPOR3 (D268Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154692	NM_001290268.2(RIPOR3):c.785C>T (p.Thr262Met)	RIPOR3 (T258M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546071	NM_001290268.2(RIPOR3):c.744C>G (p.Asp248Glu)	RIPOR3 (D244E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154691	NM_001290268.2(RIPOR3):c.733G>A (p.Glu245Lys)	RIPOR3 (E245K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154690	NM_001290268.2(RIPOR3):c.703C>T (p.Arg235Cys)	RIPOR3 (R231C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314543	NM_001290268.2(RIPOR3):c.668C>T (p.Pro223Leu)	RIPOR3 (P219L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591199	NM_001290268.2(RIPOR3):c.586C>A (p.Leu196Ile)	RIPOR3 (L192I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314549	NM_001290268.2(RIPOR3):c.583T>G (p.Trp195Gly)	RIPOR3 (W191G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154689	NM_001290268.2(RIPOR3):c.577G>A (p.Asp193Asn)	RIPOR3 (D189N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154688	NM_001290268.2(RIPOR3):c.571G>A (p.Ala191Thr)	RIPOR3 (A187T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3314546	NM_001290268.2(RIPOR3):c.554G>A (p.Arg185His)	RIPOR3 (R185H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154687	NM_001290268.2(RIPOR3):c.553C>A (p.Arg185Ser)	RIPOR3 (R185S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314545	NM_001290268.2(RIPOR3):c.520C>T (p.Arg174Cys)	RIPOR3 (R174C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154685	NM_001290268.2(RIPOR3):c.515C>T (p.Pro172Leu)	RIPOR3 (P168L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154684	NM_001290268.2(RIPOR3):c.514C>T (p.Pro172Ser)	RIPOR3 (P168S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154683	NM_001290268.2(RIPOR3):c.505C>T (p.Arg169Trp)	RIPOR3 (R165W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488259	NM_001290268.2(RIPOR3):c.494G>A (p.Arg165Gln)	RIPOR3 (R165Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3154681	NM_001290268.2(RIPOR3):c.493C>T (p.Arg165Trp)	RIPOR3 (R161W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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