ClinVar for Gene (Select 114822) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3314256	NM_052924.3(RHPN1):c.1897C>T (p.Pro633Ser)	RHPN1 (P633S)	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 3314254	NM_052924.3(RHPN1):c.1582C>T (p.Arg528Trp)	RHPN1 (R528W)	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 3314252	NM_052924.3(RHPN1):c.1871C>T (p.Pro624Leu)	RHPN1 (P624L)	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 3154139	NM_052924.3(RHPN1):c.872G>A (p.Gly291Asp)	RHPN1 (G291D)	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 3154137	NM_052924.3(RHPN1):c.322C>T (p.Pro108Ser)	RHPN1 (P108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3154135	NM_052924.3(RHPN1):c.1979C>T (p.Pro660Leu)	RHPN1 (P660L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3154133	NM_052924.3(RHPN1):c.1808G>A (p.Arg603Gln)	RHPN1 (R603Q)	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 3154131	NM_052924.3(RHPN1):c.1637C>T (p.Ala546Val)	RHPN1 (A546V)	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 3154129	NM_052924.3(RHPN1):c.1114G>A (p.Gly372Arg)	RHPN1 (G372R)	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 2658894	NM_052924.3(RHPN1):c.1299G>A (p.Val433=)	RHPN1	Single nucleotide variant (synonymous variant)	not provided	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 2614789	NM_052924.3(RHPN1):c.1895G>C (p.Arg632Pro)	RHPN1 (R632P)	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 2612664	NM_052924.3(RHPN1):c.415G>A (p.Ala139Thr)	RHPN1 (A139T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2568413	NM_052924.3(RHPN1):c.582C>G (p.His194Gln)	RHPN1 (H194Q)	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 2551947	NM_052924.3(RHPN1):c.568G>A (p.Gly190Arg)	RHPN1 (G190R)	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 2525882	NM_052924.3(RHPN1):c.107G>T (p.Arg36Leu)	RHPN1 (R36L)	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 2524393	NM_052924.3(RHPN1):c.659T>C (p.Ile220Thr)	RHPN1 (I220T)	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 2514499	NM_052924.3(RHPN1):c.1205G>A (p.Arg402His)	RHPN1 (R402H)	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 2492085	NM_052924.3(RHPN1):c.1714G>A (p.Val572Met)	RHPN1 (V572M)	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 2479526	NM_052924.3(RHPN1):c.1391C>T (p.Ala464Val)	RHPN1 (A464V)	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 2465355	NM_052924.3(RHPN1):c.1336C>T (p.Arg446Cys)	RHPN1 (R446C)	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 2455645	NM_052924.3(RHPN1):c.619C>T (p.Arg207Cys)	RHPN1 (R207C)	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 2454653	NM_052924.3(RHPN1):c.1350G>C (p.Lys450Asn)	RHPN1 (K450N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2402982	NM_052924.3(RHPN1):c.608C>T (p.Pro203Leu)	RHPN1 (P203L)	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 2395055	NM_052924.3(RHPN1):c.131T>C (p.Ile44Thr)	RHPN1 (I44T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2363635	NM_052924.3(RHPN1):c.620G>A (p.Arg207His)	RHPN1 (R207H)	Single nucleotide variant (missense variant)	not specified	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 2357908	NM_052924.3(RHPN1):c.823G>A (p.Ala275Thr)	RHPN1 (A275T)	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 2356329	NM_052924.3(RHPN1):c.1313C>T (p.Ala438Val)	RHPN1 (A438V)	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 2341025	NM_052924.3(RHPN1):c.477C>G (p.Ser159Arg)	RHPN1 (S159R)	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 2312750	NM_052924.3(RHPN1):c.18G>C (p.Arg6Ser)	LOC130001325, RHPN1 (R6S)	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 2286082	NM_052924.3(RHPN1):c.541C>T (p.Arg181Cys)	RHPN1 (R181C)	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 2253606	NM_052924.3(RHPN1):c.1433A>G (p.Glu478Gly)	RHPN1 (E478G)	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 2234614	NM_052924.3(RHPN1):c.1187C>T (p.Pro396Leu)	RHPN1 (P396L)	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 2217949	NM_052924.3(RHPN1):c.382G>A (p.Glu128Lys)	RHPN1 (E128K)	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 2205065	NM_052924.3(RHPN1):c.1813G>A (p.Val605Ile)	RHPN1 (V605I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527465	GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	ADCK5, ADCY8 +117 more	Copy number gain	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1454990	NC_000008.10:g.(?_144295143)_(145701139_?)del	ADCK5, BOP1 +52 more	Deletion	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GPathogenic
Select item 1411704	NC_000008.10:g.(?_143822561)_(145743168_?)dup	ADCK5, BOP1 +66 more	Duplication	Holoprosencephaly sequence	GUncertain significance
Select item 980335	GRCh37/hg19 8q24.3(chr8:144285728-144534781)x3	ZC3H3, ZNF696 +6 more	Copy number gain	not provided	GUncertain significance
Select item 979858	GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3	ADCK5, ARHGAP39 +69 more	Copy number gain	not provided	GLikely pathogenic
Select item 815177	GRCh37/hg19 8q24.3(chr8:144320365-144624272)x3	ZNF696, GLI4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 815175	GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1	ADGRB1, ARC +37 more	Copy number loss	not provided	GPathogenic
Select item 815174	GRCh37/hg19 8q24.3(chr8:143570920-144459613)x1	THEM6, CYP11B2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 815173	GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1	ADGRB1, ARC +62 more	Copy number loss	not provided	GPathogenic
Select item 815169	GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3	ADCK5, ADCY8 +119 more	Copy number gain	not provided	GPathogenic
Select item 815163	GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	ADGRB1, ADCY8 +155 more	Copy number gain	not provided	GPathogenic
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 689071	GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	ADCK5, ADCY8 +150 more	Copy number gain	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 687148	GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3	ADCK5, ARHGAP39 +70 more	Copy number gain	not provided	GUncertain significance
Select item 686463	GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	not provided	GPathogenic
Select item 686106	GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3	ADCK5, ADGRB1 +99 more	Copy number gain	not provided	GPathogenic
Select item 684997	GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3	ADCK5, ADCY8 +132 more	Copy number gain	not provided	GPathogenic
Select item 563555	GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3	ADCK5, ADCY8 +151 more	Copy number gain	not provided	GPathogenic
Select item 563531	GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3	ZFP41, ZFTRAF1 +80 more	Copy number gain	not provided	GPathogenic

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