ClinVar for Gene (Select 10137) - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313170	NM_006047.6(RBM12):c.2053G>C (p.Ala685Pro)	CPNE1, RBM12 (A685P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313169	NM_006047.6(RBM12):c.1757G>C (p.Gly586Ala)	CPNE1, RBM12 (G586A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3313168	NM_006047.6(RBM12):c.2776A>G (p.Lys926Glu)	CPNE1, RBM12 (K926E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313167	NM_006047.6(RBM12):c.1492C>T (p.Arg498Cys)	CPNE1, RBM12 (R498C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3313166	NM_006047.6(RBM12):c.176G>A (p.Arg59His)	CPNE1, RBM12 (R59H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313165	NM_006047.6(RBM12):c.1208C>T (p.Pro403Leu)	CPNE1, RBM12 (P403L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313164	NM_006047.6(RBM12):c.2577A>C (p.Lys859Asn)	CPNE1, RBM12 (K859N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313162	NM_006047.6(RBM12):c.1592T>G (p.Met531Arg)	CPNE1, RBM12 (M531R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3313161	NM_006047.6(RBM12):c.1267A>G (p.Arg423Gly)	CPNE1, RBM12 (R423G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248260	NC_000020.10:g.(?_31368130)_(34287210_?)del	ACSS2, ACTL10 +51 more	Deletion	Glutathione synthetase deficiency with 5-oxoprolinuria	GPathogenic
Select item 3152175	NM_006047.6(RBM12):c.622A>C (p.Ile208Leu)	CPNE1, RBM12 (I208L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152174	NM_006047.6(RBM12):c.288T>G (p.Asp96Glu)	CPNE1, RBM12 (D96E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152173	NM_006047.6(RBM12):c.2675A>G (p.Glu892Gly)	CPNE1, RBM12 (E892G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152172	NM_006047.6(RBM12):c.2488G>A (p.Gly830Ser)	CPNE1, RBM12 (G830S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152171	NM_006047.6(RBM12):c.2383G>T (p.Gly795Cys)	CPNE1, RBM12 (G795C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152170	NM_006047.6(RBM12):c.2062C>T (p.Pro688Ser)	CPNE1, RBM12 (P688S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152169	NM_006047.6(RBM12):c.2024C>T (p.Thr675Ile)	CPNE1, RBM12 (T675I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152167	NM_006047.6(RBM12):c.1795C>T (p.Arg599Cys)	CPNE1, RBM12 (R599C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152166	NM_006047.6(RBM12):c.176G>T (p.Arg59Leu)	CPNE1, RBM12 (R59L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152165	NM_006047.6(RBM12):c.1645A>G (p.Thr549Ala)	CPNE1, RBM12 (T549A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152164	NM_006047.6(RBM12):c.1622C>G (p.Ser541Cys)	CPNE1, RBM12 (S541C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152163	NM_006047.6(RBM12):c.1526G>C (p.Gly509Ala)	CPNE1, RBM12 (G509A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152162	NM_006047.6(RBM12):c.1243A>G (p.Ser415Gly)	CPNE1, RBM12 (S415G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050136	NM_006047.6(RBM12):c.2487CGGCCC[2] (p.826GP[5])	CPNE1, RBM12	Microsatellite (inframe_deletion +1 more)	RBM12-related disorder	GBenign
Select item 3050117	NM_006047.6(RBM12):c.508A>G (p.Thr170Ala)	CPNE1, RBM12 (T170A)	Single nucleotide variant (missense variant +1 more)	RBM12-related disorder	GLikely benign
Select item 3049197	NM_006047.6(RBM12):c.2505T>C (p.Pro835=)	CPNE1, RBM12	Single nucleotide variant (synonymous variant +1 more)	RBM12-related disorder	GLikely benign
Select item 3035644	NM_006047.6(RBM12):c.2505_2510dup (p.Pro837_Ile838insGlyPro)	CPNE1, RBM12	Duplication (inframe_insertion +1 more)	RBM12-related disorder	GBenign
Select item 3034426	NM_006047.6(RBM12):c.213A>G (p.Leu71=)	CPNE1, RBM12	Single nucleotide variant (synonymous variant +1 more)	RBM12-related disorder	GLikely benign
Select item 3027295	NM_006047.6(RBM12):c.2203C>T (p.Pro735Ser)	CPNE1, RBM12 (P735S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2635342	NM_006047.6(RBM12):c.563del (p.Pro188fs)	CPNE1, RBM12 (P188fs)	Deletion (frameshift variant +1 more)	RBM12-related disorder	GUncertain significance
Select item 2621240	NM_006047.6(RBM12):c.506C>G (p.Pro169Arg)	CPNE1, RBM12 (P169R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620177	NM_006047.6(RBM12):c.1342G>C (p.Asp448His)	CPNE1, RBM12 (D448H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618656	NM_006047.6(RBM12):c.992C>T (p.Ala331Val)	CPNE1, RBM12 (A331V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616829	NM_006047.6(RBM12):c.734C>T (p.Pro245Leu)	CPNE1, RBM12 (P245L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543123	NM_006047.6(RBM12):c.820C>A (p.Pro274Thr)	CPNE1, RBM12 (P274T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529103	NM_006047.6(RBM12):c.265C>T (p.Arg89Cys)	CPNE1, RBM12 (R89C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513509	NM_006047.6(RBM12):c.1678G>A (p.Val560Ile)	CPNE1, RBM12 (V560I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2499577	NM_006047.6(RBM12):c.1046A>T (p.Lys349Met)	CPNE1, RBM12 (K349M)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental delay	GUncertain significance
Select item 2487621	NM_006047.6(RBM12):c.625C>G (p.Pro209Ala)	CPNE1, RBM12 (P209A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485261	NM_006047.6(RBM12):c.2720G>A (p.Arg907Gln)	CPNE1, RBM12 (R907Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404909	NM_006047.6(RBM12):c.391C>T (p.Pro131Ser)	CPNE1, RBM12 (P131S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399833	NM_006047.6(RBM12):c.1547T>C (p.Met516Thr)	CPNE1, RBM12 (M516T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2395425	NM_006047.6(RBM12):c.2401G>A (p.Gly801Ser)	CPNE1, RBM12 (G801S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387995	NM_006047.6(RBM12):c.463G>A (p.Val155Ile)	CPNE1, RBM12 (V155I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2372279	NM_006047.6(RBM12):c.2260A>T (p.Met754Leu)	CPNE1, RBM12 (M754L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362737	NM_006047.6(RBM12):c.2500G>A (p.Gly834Ser)	CPNE1, RBM12 (G834S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348011	NM_006047.6(RBM12):c.550A>G (p.Thr184Ala)	CPNE1, RBM12 (T184A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335053	NM_006047.6(RBM12):c.1574G>C (p.Ser525Thr)	CPNE1, RBM12 (S525T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2332227	NM_006047.6(RBM12):c.1055C>T (p.Ser352Phe)	CPNE1, RBM12 (S352F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329500	NM_006047.6(RBM12):c.1961A>G (p.Asn654Ser)	CPNE1, RBM12 (N654S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2310411	NM_006047.6(RBM12):c.2408C>T (p.Pro803Leu)	CPNE1, RBM12 (P803L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303300	NM_006047.6(RBM12):c.1619A>G (p.Asn540Ser)	CPNE1, RBM12 (N540S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2302958	NM_006047.6(RBM12):c.1686G>T (p.Gln562His)	CPNE1, RBM12 (Q562H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2302335	NM_006047.6(RBM12):c.701C>A (p.Pro234His)	CPNE1, RBM12 (P234H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291654	NM_006047.6(RBM12):c.304G>A (p.Ala102Thr)	CPNE1, RBM12 (A102T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289276	NM_006047.6(RBM12):c.1807C>T (p.Arg603Cys)	CPNE1, RBM12 (R603C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282956	NM_006047.6(RBM12):c.202A>G (p.Lys68Glu)	CPNE1, RBM12 (K68E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278020	NM_006047.6(RBM12):c.2510C>A (p.Pro837Gln)	CPNE1, RBM12 (P837Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277281	NM_006047.6(RBM12):c.746C>T (p.Pro249Leu)	CPNE1, RBM12 (P249L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239642	NM_006047.6(RBM12):c.1808G>A (p.Arg603His)	CPNE1, RBM12 (R603H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223013	NM_006047.6(RBM12):c.1840G>A (p.Ala614Thr)	CPNE1, RBM12 (A614T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214357	NM_006047.6(RBM12):c.291A>G (p.Ile97Met)	CPNE1, RBM12 (I97M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1457888	NC_000020.10:g.(?_31189994)_(34287210_?)del	ACSS2, ACTL10 +53 more	Deletion	not provided	GPathogenic
Select item 1339854	NM_006047.6(RBM12):c.1592_1593delinsGGCT (p.Met531fs)	CPNE1, RBM12 (M531fs)	Indel (frameshift variant +2 more)	not provided	Gnot provided
Select item 1268243	NM_006047.6(RBM12):c.228G>A (p.Lys76=)	CPNE1, RBM12	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 781563	NM_006047.6(RBM12):c.1715A>G (p.Asn572Ser)	CPNE1, RBM12 (N572S)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 779989	NM_006047.6(RBM12):c.585G>A (p.Ala195=)	CPNE1, RBM12	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 775434	NM_006047.6(RBM12):c.2559A>G (p.Pro853=)	CPNE1, RBM12	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 769998	NM_006047.6(RBM12):c.2409G>A (p.Pro803=)	CPNE1, RBM12	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 708628	NM_006047.6(RBM12):c.1964C>T (p.Ala655Val)	CPNE1, RBM12 (A655V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 433196	NM_006047.6(RBM12):c.2532del (p.Gly845fs)	CPNE1, RBM12 (G845fs)	Deletion (frameshift variant +1 more)	Schizophrenia 19	GPathogenic
Select item 433195	NM_006047.6(RBM12):c.2377G>T (p.Gly793Ter)	CPNE1, RBM12 (G793*)	Single nucleotide variant (nonsense +1 more)	Schizophrenia 19	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 152798	GRCh38/hg38 20q11.22(chr20:35285724-35744837)x1	C20orf173, CEP250 +35 more	Copy number loss	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 83