RHPN1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 152355	GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	ADGRB1, ARC +172 more	Copy number loss	See cases	GPathogenic
Select item 146735	GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1	ADGRB1, ARC +140 more	Copy number loss	See cases	GPathogenic
Select item 144946	GRCh38/hg38 8q24.3(chr8:143329374-143531855)x3	LOC113788265, LOC130001324 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2360660	NM_052924.3(RHPN1):c.17G>A (p.Arg6Lys)	LOC130001325, RHPN1 (R6K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312750	NM_052924.3(RHPN1):c.18G>C (p.Arg6Ser)	LOC130001325, RHPN1 (R6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525882	NM_052924.3(RHPN1):c.107G>T (p.Arg36Leu)	RHPN1 (R36L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395055	NM_052924.3(RHPN1):c.131T>C (p.Ile44Thr)	RHPN1 (I44T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715734	NM_052924.3(RHPN1):c.159C>T (p.Gly53=)	RHPN1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2385985	NM_052924.3(RHPN1):c.160G>A (p.Ala54Thr)	RHPN1 (A54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154132	NM_052924.3(RHPN1):c.175A>G (p.Arg59Gly)	RHPN1 (R59G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154137	NM_052924.3(RHPN1):c.322C>T (p.Pro108Ser)	RHPN1 (P108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217949	NM_052924.3(RHPN1):c.382G>A (p.Glu128Lys)	RHPN1 (E128K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612664	NM_052924.3(RHPN1):c.415G>A (p.Ala139Thr)	RHPN1 (A139T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341025	NM_052924.3(RHPN1):c.477C>G (p.Ser159Arg)	RHPN1 (S159R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613170	NM_052924.3(RHPN1):c.488C>T (p.Ser163Leu)	RHPN1 (S163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286082	NM_052924.3(RHPN1):c.541C>T (p.Arg181Cys)	RHPN1 (R181C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551947	NM_052924.3(RHPN1):c.568G>A (p.Gly190Arg)	RHPN1 (G190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568413	NM_052924.3(RHPN1):c.582C>G (p.His194Gln)	RHPN1 (H194Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402982	NM_052924.3(RHPN1):c.608C>T (p.Pro203Leu)	RHPN1 (P203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455645	NM_052924.3(RHPN1):c.619C>T (p.Arg207Cys)	RHPN1 (R207C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363635	NM_052924.3(RHPN1):c.620G>A (p.Arg207His)	RHPN1 (R207H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524393	NM_052924.3(RHPN1):c.659T>C (p.Ile220Thr)	RHPN1 (I220T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454753	NM_052924.3(RHPN1):c.688C>T (p.Arg230Cys)	RHPN1 (R230C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154138	NM_052924.3(RHPN1):c.707C>T (p.Thr236Ile)	RHPN1 (T236I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215766	NM_052924.3(RHPN1):c.707C>G (p.Thr236Ser)	RHPN1 (T236S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485874	NM_052924.3(RHPN1):c.791C>G (p.Pro264Arg)	RHPN1 (P264R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597483	NM_052924.3(RHPN1):c.808G>A (p.Ala270Thr)	RHPN1 (A270T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357908	NM_052924.3(RHPN1):c.823G>A (p.Ala275Thr)	RHPN1 (A275T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154139	NM_052924.3(RHPN1):c.872G>A (p.Gly291Asp)	RHPN1 (G291D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154140	NM_052924.3(RHPN1):c.923G>A (p.Arg308His)	RHPN1 (R308H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2407726	NM_052924.3(RHPN1):c.955G>A (p.Glu319Lys)	RHPN1 (E319K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314253	NM_052924.3(RHPN1):c.973C>T (p.Arg325Trp)	RHPN1 (R325W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306281	NM_052924.3(RHPN1):c.982G>A (p.Ala328Thr)	RHPN1 (A328T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513684	NM_052924.3(RHPN1):c.1006G>A (p.Val336Met)	RHPN1 (V336M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2621314	NM_052924.3(RHPN1):c.1075G>A (p.Val359Ile)	RHPN1 (V359I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523610	NM_052924.3(RHPN1):c.1079C>G (p.Ala360Gly)	RHPN1 (A360G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520269	NM_052924.3(RHPN1):c.1096G>A (p.Gly366Ser)	RHPN1 (G366S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154129	NM_052924.3(RHPN1):c.1114G>A (p.Gly372Arg)	RHPN1 (G372R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234614	NM_052924.3(RHPN1):c.1187C>T (p.Pro396Leu)	RHPN1 (P396L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514499	NM_052924.3(RHPN1):c.1205G>A (p.Arg402His)	RHPN1 (R402H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154130	NM_052924.3(RHPN1):c.1247G>T (p.Gly416Val)	RHPN1 (G416V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254458	NM_052924.3(RHPN1):c.1247G>A (p.Gly416Glu)	RHPN1 (G416E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314255	NM_052924.3(RHPN1):c.1265G>T (p.Arg422Leu)	RHPN1 (R422L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658894	NM_052924.3(RHPN1):c.1299G>A (p.Val433=)	RHPN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2356329	NM_052924.3(RHPN1):c.1313C>T (p.Ala438Val)	RHPN1 (A438V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357592	NM_052924.3(RHPN1):c.1328C>T (p.Thr443Met)	RHPN1 (T443M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465355	NM_052924.3(RHPN1):c.1336C>T (p.Arg446Cys)	RHPN1 (R446C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454653	NM_052924.3(RHPN1):c.1350G>C (p.Lys450Asn)	RHPN1 (K450N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524417	NM_052924.3(RHPN1):c.1355C>T (p.Ala452Val)	RHPN1 (A452V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563183	NM_052924.3(RHPN1):c.1382G>A (p.Cys461Tyr)	RHPN1 (C461Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479526	NM_052924.3(RHPN1):c.1391C>T (p.Ala464Val)	RHPN1 (A464V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253606	NM_052924.3(RHPN1):c.1433A>G (p.Glu478Gly)	RHPN1 (E478G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460202	NM_052924.3(RHPN1):c.1484G>A (p.Arg495Gln)	RHPN1 (R495Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543176	NM_052924.3(RHPN1):c.1492C>T (p.Pro498Ser)	RHPN1 (P498S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251796	NM_052924.3(RHPN1):c.1511C>G (p.Ala504Gly)	RHPN1 (A504G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314254	NM_052924.3(RHPN1):c.1582C>T (p.Arg528Trp)	RHPN1 (R528W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154131	NM_052924.3(RHPN1):c.1637C>T (p.Ala546Val)	RHPN1 (A546V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314257	NM_052924.3(RHPN1):c.1672G>C (p.Val558Leu)	RHPN1 (V558L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352653	NM_052924.3(RHPN1):c.1684C>T (p.Pro562Ser)	RHPN1 (P562S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492085	NM_052924.3(RHPN1):c.1714G>A (p.Val572Met)	RHPN1 (V572M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218240	NM_052924.3(RHPN1):c.1742C>T (p.Ala581Val)	RHPN1 (A581V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154133	NM_052924.3(RHPN1):c.1808G>A (p.Arg603Gln)	RHPN1 (R603Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476726	NM_052924.3(RHPN1):c.1810C>T (p.Pro604Ser)	RHPN1 (P604S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205065	NM_052924.3(RHPN1):c.1813G>A (p.Val605Ile)	RHPN1 (V605I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154134	NM_052924.3(RHPN1):c.1817T>C (p.Leu606Pro)	RHPN1 (L606P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399679	NM_052924.3(RHPN1):c.1870C>T (p.Pro624Ser)	RHPN1 (P624S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314252	NM_052924.3(RHPN1):c.1871C>T (p.Pro624Leu)	RHPN1 (P624L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337165	NM_052924.3(RHPN1):c.1894C>T (p.Arg632Trp)	RHPN1 (R632W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614789	NM_052924.3(RHPN1):c.1895G>C (p.Arg632Pro)	RHPN1 (R632P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314256	NM_052924.3(RHPN1):c.1897C>T (p.Pro633Ser)	RHPN1 (P633S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154135	NM_052924.3(RHPN1):c.1979C>T (p.Pro660Leu)	RHPN1 (P660L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154136	NM_052924.3(RHPN1):c.1987T>A (p.Ser663Thr)	RHPN1 (S663T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063034	GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3	ADCK5, ARHGAP39 +63 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 2684561	GRCh37/hg19 8q24.3(chr8:144282591-144740223)x3	EEF1D, GFUS +14 more	Copy number gain	not provided	GUncertain significance
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1807792	GRCh37/hg19 8q24.3(chr8:143895666-144568446)x3	CYP11B1, CYP11B2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic

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