ClinVar for Gene (Select 79956) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276404	NM_024896.3(ERMP1):c.823A>G (p.Ile275Val)	ERMP1 (I275V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276403	NM_024896.3(ERMP1):c.1612T>C (p.Phe538Leu)	ERMP1 (F538L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276402	NM_024896.3(ERMP1):c.2485G>C (p.Asp829His)	ERMP1 (D829H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276401	NM_024896.3(ERMP1):c.1255A>T (p.Ile419Phe)	ERMP1 (I419F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276400	NM_024896.3(ERMP1):c.902C>T (p.Ala301Val)	ERMP1 (A301V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276397	NM_024896.3(ERMP1):c.884A>G (p.Asn295Ser)	ERMP1 (N295S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276396	NM_024896.3(ERMP1):c.2609C>G (p.Ser870Cys)	ERMP1 (S870C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276395	NM_024896.3(ERMP1):c.1954A>T (p.Met652Leu)	ERMP1 (M652L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276394	NM_024896.3(ERMP1):c.1517T>C (p.Ile506Thr)	ERMP1 (I506T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090315	NM_024896.3(ERMP1):c.916G>C (p.Ala306Pro)	ERMP1 (A306P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090314	NM_024896.3(ERMP1):c.2660C>A (p.Pro887Gln)	ERMP1 (P887Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090313	NM_024896.3(ERMP1):c.2603A>G (p.Tyr868Cys)	ERMP1 (Y868C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090312	NM_024896.3(ERMP1):c.2227C>G (p.Leu743Val)	ERMP1 (L621V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090311	NM_024896.3(ERMP1):c.2215G>C (p.Glu739Gln)	ERMP1 (E617Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090310	NM_024896.3(ERMP1):c.1650G>A (p.Ala550=)	ERMP1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3090309	NM_024896.3(ERMP1):c.1529C>T (p.Ala510Val)	ERMP1 (A510V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090308	NM_024896.3(ERMP1):c.1058A>G (p.Tyr353Cys)	ERMP1 (Y353C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063123	GRCh37/hg19 9p24.3-24.1(chr9:203862-8548307)x1	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 3063089	GRCh37/hg19 9p24.3-23(chr9:203861-9128400)x1	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 3063080	GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1	AK3, BRD10 +47 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 3025207	NM_024896.3(ERMP1):c.2043G>A (p.Pro681=)	ERMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2671611	Single allele	AK3, BNC2 +49 more	Deletion	not provided	GPathogenic
Select item 2659055	NM_024896.3(ERMP1):c.179C>T (p.Ala60Val)	ERMP1, LOC130001518 (A60V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2607526	NM_024896.3(ERMP1):c.286G>C (p.Val96Leu)	ERMP1, LOC130001518 (V96L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599119	NM_024896.3(ERMP1):c.65G>A (p.Gly22Glu)	ERMP1 (G22E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588294	NM_024896.3(ERMP1):c.206C>G (p.Ser69Cys)	ERMP1, LOC130001518 (S69C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569274	NM_024896.3(ERMP1):c.1652T>C (p.Phe551Ser)	ERMP1 (F551S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554947	NM_024896.3(ERMP1):c.938T>C (p.Val313Ala)	ERMP1 (V313A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543961	NM_024896.3(ERMP1):c.2384C>T (p.Thr795Ile)	ERMP1 (T673I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533537	NM_024896.3(ERMP1):c.1303A>C (p.Lys435Gln)	ERMP1 (K435Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519108	NM_024896.3(ERMP1):c.604G>A (p.Ala202Thr)	ERMP1 (A202T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491278	NM_024896.3(ERMP1):c.2248C>A (p.Leu750Ile)	ERMP1 (L628I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476455	NM_024896.3(ERMP1):c.1159A>G (p.Met387Val)	ERMP1 (M387V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476224	NM_024896.3(ERMP1):c.1894A>G (p.Met632Val)	ERMP1 (M632V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377774	NM_024896.3(ERMP1):c.2456A>G (p.Asn819Ser)	ERMP1 (N819S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369178	NM_024896.3(ERMP1):c.2617G>A (p.Asp873Asn)	ERMP1 (D751N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365208	NM_024896.3(ERMP1):c.536A>G (p.Tyr179Cys)	ERMP1 (Y179C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364230	NM_024896.3(ERMP1):c.2707G>A (p.Val903Ile)	ERMP1 (V903I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362354	NM_024896.3(ERMP1):c.2309G>A (p.Arg770Lys)	ERMP1 (R648K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346433	NM_024896.3(ERMP1):c.1255A>G (p.Ile419Val)	ERMP1 (I419V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326126	NM_024896.3(ERMP1):c.799T>A (p.Trp267Arg)	ERMP1 (W267R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321073	NM_024896.3(ERMP1):c.1721A>G (p.His574Arg)	ERMP1 (H574R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305920	NM_024896.3(ERMP1):c.1941C>G (p.Ser647Arg)	ERMP1 (S525R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302380	NM_024896.3(ERMP1):c.1687A>G (p.Thr563Ala)	ERMP1 (T563A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297379	NM_024896.3(ERMP1):c.2705T>C (p.Phe902Ser)	ERMP1 (F902S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289912	NM_024896.3(ERMP1):c.871A>T (p.Thr291Ser)	ERMP1 (T291S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288482	NM_024896.3(ERMP1):c.688C>T (p.Arg230Cys)	ERMP1 (R230C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272961	NM_024896.3(ERMP1):c.1388C>T (p.Thr463Ile)	ERMP1 (T463I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269988	NM_024896.3(ERMP1):c.901G>A (p.Ala301Thr)	ERMP1 (A301T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264110	NM_024896.3(ERMP1):c.1478G>T (p.Cys493Phe)	ERMP1 (C493F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259449	NM_024896.3(ERMP1):c.1700T>G (p.Val567Gly)	ERMP1 (V567G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258822	NM_024896.3(ERMP1):c.111G>C (p.Glu37Asp)	ERMP1 (E37D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257574	NM_024896.3(ERMP1):c.581A>G (p.Asp194Gly)	ERMP1 (D194G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255498	NM_024896.3(ERMP1):c.2095G>A (p.Glu699Lys)	ERMP1 (E699K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240757	NM_024896.3(ERMP1):c.1291T>A (p.Tyr431Asn)	ERMP1 (Y431N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224488	NM_024896.3(ERMP1):c.2603A>C (p.Tyr868Ser)	ERMP1 (Y746S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221491	NM_024896.3(ERMP1):c.1673C>T (p.Ala558Val)	ERMP1 (A558V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807930	GRCh37/hg19 9p24.1(chr9:5777250-5883366)x1	ERMP1	Copy number loss	not provided	GUncertain significance
Select item 1807859	GRCh37/hg19 9p24.3-24.1(chr9:203862-5958840)x4	RIC1, RLN1 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1708182	GRCh37/hg19 9p24.3-22.3(chr9:203861-15048247)x1	AK3, BRD10 +44 more	Copy number loss	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1706515	GRCh37/hg19 9p24.3-23(chr9:203861-10283912)x1	AK3, BRD10 +37 more	Copy number loss	See cases	GPathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703682	GRCh37/hg19 9p24.3-24.1(chr9:203861-7959823)	AK3, BRD10 +36 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703681	GRCh37/hg19 9p24.1-22.1(chr9:4992582-19322101)	ADAMTSL1, BNC2 +38 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703680	GRCh37/hg19 9p24.3-23(chr9:203861-12570076)	IL33, RCL1 +37 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703678	GRCh37/hg19 9p24.3-23(chr9:203861-12127088)	AK3, BRD10 +37 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1696626	Single allele	CD274, ERMP1 +44 more	Duplication	not provided	GUncertain significance
Select item 1684649	Single allele	LOC130001502, LOC130001503 +233 more	Deletion	Chromosome 9p deletion syndrome	GPathogenic
Select item 1527495	GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)	ACER2, ACO1 +114 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACER2, ACO1 +205 more	Copy number gain	not specified	GPathogenic
Select item 1527485	GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)	AK3, BNC2 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527484	GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)	AK3, BRD10 +45 more	Copy number loss	not specified	GPathogenic
Select item 1527483	GRCh37/hg19 9p24.3-22.3(chr9:203861-14694074)	AK3, BRD10 +42 more	Copy number loss	not specified	GPathogenic
Select item 1527482	GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)	AK3, BRD10 +41 more	Copy number loss	not specified	GPathogenic
Select item 1527480	GRCh37/hg19 9p24.3-23(chr9:203861-11414732)	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527479	GRCh37/hg19 9p24.3-23(chr9:203861-9631665)	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527478	GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527477	GRCh37/hg19 9p24.3-24.1(chr9:203861-7759331)	AK3, BRD10 +35 more	Copy number loss	not specified	GPathogenic
Select item 1527476	GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152)	AK3, CD274 +28 more	Copy number loss	not specified	GPathogenic
Select item 1047891	GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812)	PTPRD, PUM3 +52 more	Copy number loss	Trigonocephaly	GPathogenic
Select item 1047875	GRCh37/hg19 9p24.2-24.1(chr9:2854435-6937677)	MIR101-2, RCL1 +25 more	Copy number gain	Global developmental delay	GPathogenic
Select item 981212	GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1	TTC39B, TYRP1 +51 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 815214	GRCh37/hg19 9p24.1(chr9:4613939-6144065)x1	AK3, RCL1 +17 more	Copy number loss	not provided	GUncertain significance
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 815189	GRCh37/hg19 9p24.3-23(chr9:203861-14080419)x1	AK3, BRD10 +40 more	Copy number loss	not provided	GPathogenic
Select item 815188	GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1	DMAC1, ERMP1 +41 more	Copy number loss	not provided	GPathogenic
Select item 815187	GRCh37/hg19 9p24.3-23(chr9:203861-10666419)x1	SLC1A1, SMARCA2 +37 more	Copy number loss	not provided	GPathogenic
Select item 815186	GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1	LURAP1L, MIR101-2 +51 more	Copy number loss	not provided	GPathogenic
Select item 789196	NM_024896.3(ERMP1):c.1593G>A (p.Ser531=)	ERMP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776407	NM_024896.3(ERMP1):c.1212G>A (p.Val404=)	ERMP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773508	NM_024896.3(ERMP1):c.1021+6T>C	ERMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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