ClinVar for Gene (Select 90459) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367550	NM_153332.4(ERI1):c.949C>T (p.Arg317Ter)	ERI1 (R202* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3276338	NM_153332.4(ERI1):c.388A>G (p.Ile130Val)	ERI1 (I15V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276337	NM_153332.4(ERI1):c.191C>T (p.Pro64Leu)	ERI1 (P64L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3276336	NM_153332.4(ERI1):c.395T>G (p.Ile132Ser)	ERI1 (I132S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252466	NM_153332.4(ERI1):c.869G>A (p.Gly290Glu)	ERI1 (G175E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3242300	GRCh37/hg19 8p23.1(chr8:7153587-12245784)x3	BLK, C8orf74 +48 more	Copy number gain	not provided	GPathogenic
Select item 3148928	GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3	AGPAT5, ANGPT2 +77 more	Copy number gain	See cases	GPathogenic
Select item 3090178	NM_153332.4(ERI1):c.856A>G (p.Met286Val)	ERI1 (M208V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090177	NM_153332.4(ERI1):c.815G>A (p.Arg272Lys)	ERI1 (R272K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090176	NM_153332.4(ERI1):c.613C>G (p.Gln205Glu)	ERI1 (Q127E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090175	NM_153332.4(ERI1):c.516G>C (p.Gln172His)	ERI1 (Q57H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090174	NM_153332.4(ERI1):c.433C>T (p.Pro145Ser)	ERI1 (P145S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090173	NM_153332.4(ERI1):c.398T>C (p.Ile133Thr)	ERI1 (I133T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
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 3063007	GRCh37/hg19 8p23.1(chr8:8847086-8942231)x1	ERI1	Copy number loss	not specified	GUncertain significance
Select item 3061999	NM_153332.4(ERI1):c.514C>T (p.Gln172Ter)	ERI1 (Q172* +2 more)	Single nucleotide variant (nonsense)	Hoxha-Aliu syndrome	GLikely pathogenic
Select item 3060400	NM_153332.4(ERI1):c.47T>C (p.Leu16Pro)	ERI1 (L16P)	Single nucleotide variant (5 prime UTR variant +1 more)	ERI1-related disorder	GBenign
Select item 3059941	NM_153332.4(ERI1):c.435T>G (p.Pro145=)	ERI1	Single nucleotide variant (synonymous variant)	ERI1-related disorder	GBenign
Select item 3058455	NM_153332.4(ERI1):c.166T>C (p.Ser56Pro)	ERI1 (S56P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3055311	NM_153332.4(ERI1):c.71C>G (p.Pro24Arg)	ERI1 (P24R)	Single nucleotide variant (5 prime UTR variant +1 more)	ERI1-related disorder	GLikely benign
Select item 3052423	NM_153332.4(ERI1):c.435T>A (p.Pro145=)	ERI1	Single nucleotide variant (synonymous variant)	ERI1-related disorder	GLikely benign
Select item 3049051	NM_153332.4(ERI1):c.555C>T (p.Phe185=)	ERI1	Single nucleotide variant (synonymous variant)	ERI1-related disorder	GLikely benign
Select item 3047058	NM_153332.4(ERI1):c.583-9T>C	ERI1	Single nucleotide variant (intron variant)	ERI1-related disorder	GLikely benign
Select item 3042758	NM_153332.4(ERI1):c.109-18_109-6del	ERI1	Deletion (intron variant)	ERI1-related disorder	GLikely benign
Select item 3037479	NM_153332.4(ERI1):c.109-11_109-6del	ERI1	Duplication (intron variant)	ERI1-related disorder	GLikely benign
Select item 3034826	NM_153332.4(ERI1):c.327T>C (p.Tyr109=)	ERI1	Single nucleotide variant (synonymous variant +1 more)	ERI1-related disorder	GLikely benign
Select item 3034307	NM_153332.4(ERI1):c.582+10C>T	ERI1	Single nucleotide variant (intron variant)	ERI1-related disorder	GLikely benign
Select item 3033956	NM_153332.4(ERI1):c.417T>C (p.Cys139=)	ERI1	Single nucleotide variant (synonymous variant)	ERI1-related disorder	GLikely benign
Select item 2685282	GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1	DEFB105A, DEFB107B +64 more	Copy number loss	not provided	GPathogenic
Select item 2685281	GRCh37/hg19 8p23.3-23.1(chr8:158049-10007143)x1	DEFB1, DEFB107A +46 more	Copy number loss	not provided	GPathogenic
Select item 2684522	GRCh37/hg19 8p23.1-22(chr8:8093169-14526969)x3	BLK, C8orf48 +34 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2674633	NM_153332.4(ERI1):c.582+1G>A	ERI1	Single nucleotide variant (splice donor variant)	Hoxha-Aliu syndrome	GPathogenic
Select item 2674629	NM_153332.4(ERI1):c.62C>A (p.Ser21Ter)	ERI1 (S21*)	Single nucleotide variant (5 prime UTR variant +1 more)	Spondyloepimetaphyseal dysplasia, Guo-Campeau type	GLikely pathogenic
Select item 2674628	NM_153332.4(ERI1):c.464C>T (p.Pro155Leu)	ERI1 (P155L +2 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Guo-Campeau type	GLikely pathogenic
Select item 2674627	NM_153332.4(ERI1):c.893A>C (p.Asp298Ala)	ERI1 (D298A +2 more)	Single nucleotide variant (missense variant +1 more)	Spondyloepimetaphyseal dysplasia, Guo-Campeau type	GPathogenic
Select item 2674626	NM_153332.4(ERI1):c.893A>G (p.Asp298Gly)	ERI1 (D298G +2 more)	Single nucleotide variant (missense variant +1 more)	Spondyloepimetaphyseal dysplasia, Guo-Campeau type	GLikely pathogenic
Select item 2674625	NM_153332.4(ERI1):c.450A>T (p.Glu150Asp)	ERI1 (E150D +2 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Guo-Campeau type	GLikely pathogenic
Select item 2674624	NM_153332.4(ERI1):c.352A>T (p.Lys118Ter)	ERI1 (K118* +2 more)	Single nucleotide variant (nonsense)	Hoxha-Aliu syndrome	GLikely pathogenic
Select item 2658381	NM_153332.4(ERI1):c.501A>G (p.Glu167=)	ERI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658380	NM_153332.4(ERI1):c.105C>G (p.Pro35=)	ERI1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2632656	NM_153332.4(ERI1):c.711G>C (p.Lys237Asn)	ERI1 (K122N +2 more)	Single nucleotide variant (missense variant)	ERI1-related disorder	GUncertain significance
Select item 2621803	NM_153332.4(ERI1):c.49G>T (p.Ala17Ser)	ERI1 (A17S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2616306	NM_153332.4(ERI1):c.191C>A (p.Pro64Gln)	ERI1 (P64Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2614058	NM_153332.4(ERI1):c.50C>A (p.Ala17Glu)	ERI1 (A17E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2611310	NM_153332.4(ERI1):c.788C>T (p.Ser263Leu)	ERI1 (S263L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600501	NM_153332.4(ERI1):c.173C>A (p.Ala58Glu)	ERI1 (A58E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2580328	GRCh37/hg19 8p23.3-23.1(chr8:10501-11142629)x1	AGPAT5, ANGPT2 +55 more	Copy number loss	See cases	GPathogenic
Select item 2580324	GRCh37/hg19 8p23.1(chr8:7080281-12045269)x3	BLK, C8orf74 +47 more	Copy number gain	8p23.1 duplication syndrome	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2510393	NM_153332.4(ERI1):c.28G>T (p.Ala10Ser)	ERI1 (A10S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2496115	NM_153332.4(ERI1):c.190C>T (p.Pro64Ser)	ERI1 (P64S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2485223	NM_153332.4(ERI1):c.950G>A (p.Arg317Gln)	ERI1 (R239Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465657	NM_153332.4(ERI1):c.986G>A (p.Ser329Asn)	ERI1 (S214N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458171	NM_153332.4(ERI1):c.998C>A (p.Ser333Tyr)	ERI1 (S218Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2411430	NM_153332.4(ERI1):c.910C>G (p.Arg304Gly)	ERI1 (R189G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394278	NM_153332.4(ERI1):c.328T>C (p.Tyr110His)	ERI1 (Y110H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389919	NM_153332.4(ERI1):c.661A>G (p.Thr221Ala)	ERI1 (T106A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370402	NM_153332.4(ERI1):c.215C>T (p.Thr72Met)	ERI1 (T72M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2368302	NM_153332.4(ERI1):c.119A>C (p.Gln40Pro)	ERI1 (Q40P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2364676	NM_153332.4(ERI1):c.265T>G (p.Ser89Ala)	ERI1 (S11A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341876	NM_153332.4(ERI1):c.22G>C (p.Glu8Gln)	ERI1 (E8Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2317267	NM_153332.4(ERI1):c.329A>G (p.Tyr110Cys)	ERI1 (Y32C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314799	NM_153332.4(ERI1):c.865G>A (p.Asp289Asn)	ERI1 (D211N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293995	NM_153332.4(ERI1):c.38C>A (p.Ala13Asp)	ERI1 (A13D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2278606	NM_153332.4(ERI1):c.602A>T (p.Asp201Val)	ERI1 (D201V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275072	NM_153332.4(ERI1):c.714C>G (p.Phe238Leu)	ERI1 (F238L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265857	NM_153332.4(ERI1):c.926T>G (p.Met309Arg)	ERI1 (M194R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265789	NM_153332.4(ERI1):c.10C>T (p.Pro4Ser)	ERI1 (P4S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2254154	NM_153332.4(ERI1):c.822A>C (p.Gln274His)	ERI1 (Q196H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253811	NM_153332.4(ERI1):c.963A>C (p.Lys321Asn)	ERI1 (K243N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808721	GRCh37/hg19 8p23.3-23.1(chr8:158049-10965627)x1	AGPAT5, ANGPT2 +53 more	Copy number loss	not provided	GPathogenic
Select item 1808083	GRCh37/hg19 8p23.1(chr8:6284373-9047178)x3	AGPAT5, ANGPT2 +33 more	Copy number gain	not provided	GUncertain significance
Select item 1807804	GRCh37/hg19 8p23.1(chr8:8093066-12548732)x1	CTSB, DEFB130A +29 more	Copy number loss	not provided	GPathogenic
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	AGPAT5, ANGPT2 +93 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1708195	GRCh37/hg19 8p23.3-23.1(chr8:158048-11281408)x1	AGPAT5, ANGPT2 +56 more	Copy number loss	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703667	GRCh37/hg19 8p23.1(chr8:8093168-11898980)	C8orf74, RP1L1 +23 more	Copy number gain	Neurodevelopmental delay	GPathogenic
Select item 1703666	GRCh37/hg19 8p23.3-23.1(chr8:158048-10348413)	AGPAT5, ANGPT2 +46 more	Copy number gain	Neurodevelopmental delay	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1686780	NM_153332.4(ERI1):c.895T>C (p.Ser299Pro)	ERI1 (S184P +2 more)	Single nucleotide variant (missense variant +1 more)	Spondyloepimetaphyseal dysplasia, Guo-Campeau type	GLikely pathogenic
Select item 1686779	NM_153332.4(ERI1):c.401A>G (p.Asp134Gly)	ERI1 (D134G +2 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Guo-Campeau type	GLikely pathogenic
Select item 1340858	GRCh37/hg19 8p23.1(chr8:8851466-9623653)x3	ERI1, PPP1R3B +1 more	Copy number gain	not provided	GUncertain significance
Select item 1340207	GRCh37/hg19 8p23.1(chr8:8546159-8999455)x3	CLDN23, ERI1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1339975	GRCh37/hg19 8p23.3-23.1(chr8:158048-11936107)x3	AGPAT5, ANGPT2 +64 more	Copy number gain	not provided	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 976768	NM_153332.4(ERI1):c.730C>T (p.Gln244Ter)	ERI1 (Q129* +2 more)	Single nucleotide variant (nonsense)	ERI1-associated disorder	GLikely pathogenic
Select item 974794	GRCh37/hg19 8p23.3-23.1(chr8:176814-11472913)x1	DEFB106B, XKR5 +57 more	Copy number loss	Intellectual disability +1 more	GPathogenic
Select item 929827	GRCh37/hg19 8p23.1(chr8:7881478-11860845)x1	NEIL2, PINX1 +23 more	Copy number loss	See cases	GPathogenic
Select item 815090	GRCh37/hg19 8p23.1(chr8:8812264-8867363)x1	ERI1	Copy number loss	not provided	GLikely benign
Select item 815089	GRCh37/hg19 8p23.1(chr8:8582215-9034435)x3	ERI1, MFHAS1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 815087	GRCh37/hg19 8p23.1(chr8:8093169-11272546)x1	MIR124-1, MSRA +14 more	Copy number loss	not provided	GPathogenic
Select item 815086	GRCh37/hg19 8p23.1(chr8:8093169-11936001)x1	C8orf74, CLDN23 +23 more	Copy number loss	not provided	GPathogenic
Select item 815085	GRCh37/hg19 8p23.1(chr8:8093065-11881742)x3	NEIL2, PINX1 +23 more	Copy number gain	not provided	GPathogenic
Select item 815083	GRCh37/hg19 8p23.1(chr8:6999219-11895232)x3	DEFB105B, DEFB106A +43 more	Copy number gain	not provided	GPathogenic
Select item 815066	GRCh37/hg19 8p23.3-23.1(chr8:158048-9025197)x1	AGPAT5, ANGPT2 +43 more	Copy number loss	not provided	GPathogenic
Select item 768227	NM_153332.4(ERI1):c.873G>C (p.Arg291=)	ERI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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