23994[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59736	GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3	AGPAT5, ANGPT2 +380 more	Copy number gain	See cases	GPathogenic
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
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 59737	GRCh38/hg38 8p23.3-23.1(chr8:219853-10165486)x3	AGPAT5, ANGPT2 +255 more	Copy number gain	See cases	GPathogenic
Select item 155181	GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	LOC129999827, LOC129999828 +393 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 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	LOC101929290, LOC102723313 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 148922	GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3	LOC123987611, LOC123987612 +393 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 154529	GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1	AGPAT5, ANGPT2 +256 more	Copy number loss	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 more	Copy number gain	See cases	GPathogenic
Select item 146221	GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1	AGPAT5, ANGPT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 145525	GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1	LOC129999826, LOC129999827 +253 more	Copy number loss	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	LOC101929290, LOC102723313 +471 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 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 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 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	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 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	See cases	GPathogenic
Select item 150028	GRCh38/hg38 8p23.2-23.1(chr8:3934205-11526939)x1	AGPAT5, ANGPT2 +259 more	Copy number loss	See cases	GPathogenic
Select item 149529	GRCh38/hg38 8p23.1(chr8:7103661-12299882)x3	DEFB103B, DEFB104A +256 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 59322	GRCh38/hg38 8p23.1(chr8:7195664-12383643)x1	LOC129999906, LOC129999907 +258 more	Copy number loss	See cases	GPathogenic
Select item 59332	GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1	BLK, C8orf74 +260 more	Copy number loss	See cases	GPathogenic
Select item 147315	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x1	BLK, C8orf74 +255 more	Copy number loss	See cases	GPathogenic
Select item 147314	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x3	LOC129999824, LOC129999825 +255 more	Copy number gain	See cases	GPathogenic
Select item 59334	GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1	BLK, C8orf74 +232 more	Copy number loss	See cases	GPathogenic
Select item 57482	GRCh38/hg38 8p23.1(chr8:7411297-12182465)x3	BLK, C8orf74 +241 more	Copy number gain	See cases	GPathogenic
Select item 144766	GRCh38/hg38 8p23.1(chr8:7834379-12182465)x3	BLK, C8orf74 +217 more	Copy number gain	See cases	GPathogenic
Select item 161086	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	BLK, C8orf74 +205 more	Copy number loss	See cases	GPathogenic
Select item 152312	GRCh38/hg38 8p23.1(chr8:8222339-11984333)x1	LOC129999867, LOC129999868 +198 more	Copy number loss	See cases	GPathogenic
Select item 148798	GRCh38/hg38 8p23.1(chr8:8222339-12050329)x3	BLK, C8orf74 +199 more	Copy number gain	See cases	GLikely pathogenic
Select item 144130	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	FAM85B, FAM86B1 +205 more	Copy number loss	See cases	GPathogenic
Select item 57060	GRCh38/hg38 8p23.1(chr8:8222339-12383643)x1	BLK, C8orf74 +208 more	Copy number loss	See cases	GPathogenic
Select item 155213	GRCh38/hg38 8p23.1(chr8:8235544-12088347)x3	BLK, C8orf74 +196 more	Copy number gain	See cases	GPathogenic
Select item 155289	GRCh38/hg38 8p23.1(chr8:8235647-12077956)x1	BLK, C8orf74 +196 more	Copy number loss	See cases	GPathogenic
Select item 153672	GRCh38/hg38 8p23.1(chr8:8235647-12037723)x1	BLK, C8orf74 +195 more	Copy number loss	See cases	GPathogenic
Select item 152872	GRCh38/hg38 8p23.1(chr8:8253505-11422633)x1	C8orf74, CLDN23 +124 more	Copy number loss	See cases	GPathogenic
Select item 151010	GRCh38/hg38 8p23.1(chr8:8253505-9758024)x1	CLDN23, ERI1 +65 more	Copy number loss	See cases	GUncertain significance
Select item 149562	GRCh38/hg38 8p23.1(chr8:8253505-12003060)x1	BLK, C8orf74 +193 more	Copy number loss	See cases	GPathogenic
Select item 148431	GRCh38/hg38 8p23.1(chr8:8253505-12610034)x1	BLK, C8orf74 +207 more	Copy number loss	See cases	GPathogenic
Select item 161001	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x3	BLK, C8orf74 +189 more	Copy number gain	See cases	GPathogenic
Select item 154643	GRCh38/hg38 8p23.1(chr8:8273108-12610034)x1	BLK, C8orf74 +206 more	Copy number loss	See cases	GPathogenic
Select item 154448	GRCh38/hg38 8p23.1(chr8:8273108-9687019)x1	CLDN23, ERI1 +61 more	Copy number loss	See cases	GPathogenic
Select item 146493	GRCh38/hg38 8p23.1(chr8:8273108-12383643)x1	BLK, C8orf74 +201 more	Copy number loss	See cases	GPathogenic
Select item 146455	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x1	BLK, C8orf74 +189 more	Copy number loss	See cases	GPathogenic
Select item 145585	GRCh38/hg38 8p23.1(chr8:8273108-12546553)x3	PPP1R3B, PPP1R3B-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 60347	GRCh38/hg38 8p23.1(chr8:8336212-9953226)x1	CLDN23, ERI1 +63 more	Copy number loss	See cases	GPathogenic
Select item 59640	GRCh38/hg38 8p23.1(chr8:8336212-12021806)x3	BLK, C8orf74 +188 more	Copy number gain	See cases	GPathogenic
Select item 59639	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x1	LOC129999836, LOC129999837 +187 more	Copy number loss	See cases	GPathogenic
Select item 59638	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x3	BLK, C8orf74 +187 more	Copy number gain	See cases	GPathogenic
Select item 144626	GRCh38/hg38 8p23.1(chr8:8545843-11814470)x1	MTMR9, NEIL2 +160 more	Copy number loss	See cases	GPathogenic
Select item 154984	GRCh38/hg38 8p23.1(chr8:8764148-9456289)x3	ERI1, LOC101929128 +25 more	Copy number gain	See cases	GUncertain significance
Select item 153058	GRCh38/hg38 8p23.1(chr8:8764178-11063564)x3	C8orf74, CRE3 +67 more	Copy number gain	See cases	GPathogenic
Select item 549619	NC_000008.10:g.8790358_8891761del101404	ERI1, LOC113788294 +1 more	Deletion	Primary amenorrhea	GLikely benign
Select item 148367	GRCh38/hg38 8p23.1(chr8:9000344-9503539)x1	ERI1, LOC101929128 +14 more	Copy number loss	See cases	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 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 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 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 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 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 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 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 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 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 731735	NM_153332.4(ERI1):c.109-8_109-7insGT	ERI1	Insertion (intron variant)	not provided	GLikely benign
Select item 712692	NM_153332.4(ERI1):c.109-9T>G	ERI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 155447	GRCh38/hg38 8p23.1(chr8:9009853-10496260)x3	ERI1, LINC03022 +33 more	Copy number gain	See cases	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 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 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 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 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 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 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 3033956	NM_153332.4(ERI1):c.417T>C (p.Cys139=)	ERI1	Single nucleotide variant (synonymous variant)	ERI1-related disorder	GLikely benign
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 3059941	NM_153332.4(ERI1):c.435T>G (p.Pro145=)	ERI1	Single nucleotide variant (synonymous variant)	ERI1-related disorder	GBenign
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 2658381	NM_153332.4(ERI1):c.501A>G (p.Glu167=)	ERI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 3049051	NM_153332.4(ERI1):c.555C>T (p.Phe185=)	ERI1	Single nucleotide variant (synonymous variant)	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 3047058	NM_153332.4(ERI1):c.583-9T>C	ERI1	Single nucleotide variant (intron variant)	ERI1-related disorder	GLikely benign
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

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