HIVEP3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 154142	GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1	C1orf50, CCDC30 +142 more	Copy number loss	See cases	GPathogenic
Select item 3037152	NM_024503.5(HIVEP3):c.7211C>G (p.Pro2404Arg)	HIVEP3 (P2403R +1 more)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GBenign
Select item 402940	NM_024503.5(HIVEP3):c.7126C>T (p.Pro2376Ser)	HIVEP3 (P2376S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3046158	NM_024503.5(HIVEP3):c.7091G>A (p.Arg2364His)	HIVEP3 (R2363H +1 more)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GLikely benign
Select item 720986	NM_024503.5(HIVEP3):c.7033G>A (p.Ala2345Thr)	HIVEP3 (A2344T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3060063	NM_024503.5(HIVEP3):c.7023C>T (p.Pro2341=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GBenign
Select item 402941	NM_024503.5(HIVEP3):c.7015A>G (p.Thr2339Ala)	HIVEP3 (T2339A +1 more)	Single nucleotide variant (missense variant)	HIVEP3-related disorder +1 more	GBenign
Select item 3041313	NM_024503.5(HIVEP3):c.7014G>A (p.Pro2338=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GLikely benign
Select item 3037301	NM_024503.5(HIVEP3):c.7013C>T (p.Pro2338Leu)	HIVEP3 (P2337L +1 more)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GBenign
Select item 3056543	NM_024503.5(HIVEP3):c.6998A>G (p.Glu2333Gly)	HIVEP3 (E2332G +1 more)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GBenign
Select item 3042394	NM_024503.5(HIVEP3):c.6968G>A (p.Arg2323Gln)	HIVEP3 (R2322Q +1 more)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GBenign
Select item 2638728	NM_024503.5(HIVEP3):c.6951G>A (p.Arg2317=)	HIVEP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3053250	NM_024503.5(HIVEP3):c.6921C>A (p.Ser2307Arg)	HIVEP3 (S2306R +1 more)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GLikely benign
Select item 2638729	NM_024503.5(HIVEP3):c.6888C>T (p.Thr2296=)	HIVEP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3053174	NM_024503.5(HIVEP3):c.6846C>T (p.Gly2282=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GLikely benign
Select item 402942	NM_024503.5(HIVEP3):c.6814G>A (p.Gly2272Arg)	HIVEP3 (G2272R +1 more)	Single nucleotide variant (missense variant)	HIVEP3-related disorder +1 more	GBenign
Select item 775537	NM_024503.5(HIVEP3):c.6768T>C (p.Pro2256=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder +1 more	GBenign
Select item 3039100	NM_024503.5(HIVEP3):c.6759C>T (p.Ser2253=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GLikely benign
Select item 3039451	NM_024503.5(HIVEP3):c.6722G>A (p.Arg2241Gln)	HIVEP3 (R2240Q +1 more)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GBenign
Select item 3046083	NM_024503.5(HIVEP3):c.6691G>A (p.Asp2231Asn)	HIVEP3 (D2230N +1 more)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GLikely benign
Select item 3039552	NM_024503.5(HIVEP3):c.6678C>T (p.Ser2226=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GBenign
Select item 3044009	NM_024503.5(HIVEP3):c.6623G>A (p.Gly2208Glu)	HIVEP3 (G2207E +1 more)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GBenign
Select item 2638730	NM_024503.5(HIVEP3):c.6426T>C (p.Ser2142=)	HIVEP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3035562	NM_024503.5(HIVEP3):c.6415G>A (p.Glu2139Lys)	HIVEP3 (E2138K +1 more)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GBenign
Select item 3042374	NM_024503.5(HIVEP3):c.6406-6C>T	HIVEP3	Single nucleotide variant (intron variant)	HIVEP3-related disorder	GBenign
Select item 775538	NM_024503.5(HIVEP3):c.6042C>T (p.His2014=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder +1 more	GBenign
Select item 3050347	NM_024503.5(HIVEP3):c.6002G>A (p.Arg2001Gln)	HIVEP3 (R2001Q)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GBenign
Select item 3056419	NM_024503.5(HIVEP3):c.5968A>C (p.Asn1990His)	HIVEP3 (N1990H)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GLikely benign
Select item 3042148	NM_024503.5(HIVEP3):c.5939C>A (p.Pro1980Gln)	HIVEP3 (P1980Q)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GBenign
Select item 402943	NM_024503.5(HIVEP3):c.5736T>C (p.Ala1912=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder +1 more	GBenign
Select item 3038631	NM_024503.5(HIVEP3):c.5730G>A (p.Thr1910=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GBenign
Select item 3034762	NM_024503.5(HIVEP3):c.5729C>T (p.Thr1910Met)	HIVEP3 (T1910M)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GBenign
Select item 3055340	NM_024503.5(HIVEP3):c.5708C>T (p.Pro1903Leu)	HIVEP3 (P1903L)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GBenign
Select item 3034207	NM_024503.5(HIVEP3):c.5649G>A (p.Pro1883=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GLikely benign
Select item 1341786	NM_024503.5(HIVEP3):c.5645C>A (p.Pro1882His)	HIVEP3 (P1882H)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3052763	NM_024503.5(HIVEP3):c.5464G>A (p.Glu1822Lys)	HIVEP3 (E1822K)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GLikely benign
Select item 3056793	NM_024503.5(HIVEP3):c.5328C>T (p.His1776=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GBenign
Select item 2637343	NM_024503.5(HIVEP3):c.5224G>A (p.Glu1742Lys)	HIVEP3 (E1742K)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GUncertain significance
Select item 3055426	NM_024503.5(HIVEP3):c.5042G>A (p.Arg1681His)	HIVEP3 (R1681H)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GBenign
Select item 3044364	NM_024503.5(HIVEP3):c.5037C>T (p.Ser1679=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GLikely benign
Select item 1685232	NM_024503.5(HIVEP3):c.5000C>T (p.Ala1667Val)	HIVEP3 (A1667V)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3055908	NM_024503.5(HIVEP3):c.4728G>A (p.Thr1576=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GBenign
Select item 3056010	NM_024503.5(HIVEP3):c.4722A>G (p.Ser1574=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GBenign
Select item 2638731	NM_024503.5(HIVEP3):c.4699C>T (p.Pro1567Ser)	HIVEP3 (P1567S)	Single nucleotide variant (missense variant)	HIVEP3-related disorder +1 more	GBenign/Likely benign
Select item 3033606	NM_024503.5(HIVEP3):c.4323C>T (p.Thr1441=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GLikely benign
Select item 3038147	NM_024503.5(HIVEP3):c.4287A>G (p.Lys1429=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GLikely benign
Select item 982626	NM_024503.5(HIVEP3):c.4121A>G (p.His1374Arg)	HIVEP3 (H1374R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3035021	NM_024503.5(HIVEP3):c.3984G>A (p.Pro1328=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GBenign
Select item 3041326	NM_024503.5(HIVEP3):c.3978T>C (p.Asn1326=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GBenign
Select item 2638732	NM_024503.5(HIVEP3):c.3939C>T (p.Thr1313=)	HIVEP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 402944	NM_024503.5(HIVEP3):c.3856C>A (p.Arg1286=)	HIVEP3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3050074	NM_024503.5(HIVEP3):c.3687G>T (p.Pro1229=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GBenign
Select item 402945	NM_024503.5(HIVEP3):c.3657G>A (p.Gln1219=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder +1 more	GBenign
Select item 3053123	NM_024503.5(HIVEP3):c.3570G>A (p.Pro1190=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GLikely benign
Select item 3046027	NM_024503.5(HIVEP3):c.3411A>G (p.Pro1137=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GLikely benign
Select item 3034054	NM_024503.5(HIVEP3):c.3408G>A (p.Lys1136=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GLikely benign
Select item 3041853	NM_024503.5(HIVEP3):c.3306G>A (p.Lys1102=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GLikely benign
Select item 3055653	NM_024503.5(HIVEP3):c.3261G>C (p.Gln1087His)	HIVEP3 (Q1087H)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GBenign
Select item 3057399	NM_024503.5(HIVEP3):c.3258C>A (p.Ser1086=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GLikely benign
Select item 3037716	NM_024503.5(HIVEP3):c.3169T>A (p.Ser1057Thr)	HIVEP3 (S1057T)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GBenign
Select item 3040900	NM_024503.5(HIVEP3):c.3099G>A (p.Ala1033=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GLikely benign
Select item 3045032	NM_024503.5(HIVEP3):c.2934C>A (p.Val978=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GLikely benign
Select item 3035832	NM_024503.5(HIVEP3):c.2775T>C (p.Ser925=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GLikely benign
Select item 3044334	NM_024503.5(HIVEP3):c.2512C>T (p.Arg838Cys)	HIVEP3 (R838C)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GLikely benign
Select item 3045732	NM_024503.5(HIVEP3):c.2347G>A (p.Gly783Ser)	HIVEP3 (G783S)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GLikely benign
Select item 3058274	NM_024503.5(HIVEP3):c.2241G>A (p.Arg747=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GLikely benign
Select item 3055760	NM_024503.5(HIVEP3):c.2239C>T (p.Arg747Trp)	HIVEP3 (R747W)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GLikely benign
Select item 3035628	NM_024503.5(HIVEP3):c.2082G>A (p.Pro694=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GLikely benign
Select item 3056445	NM_024503.5(HIVEP3):c.2013C>T (p.Ile671=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GBenign
Select item 3052240	NM_024503.5(HIVEP3):c.1929C>T (p.Tyr643=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GLikely benign
Select item 3060384	NM_024503.5(HIVEP3):c.1724A>G (p.His575Arg)	HIVEP3 (H575R)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GBenign
Select item 3030830	NM_024503.5(HIVEP3):c.1602del (p.Val535fs)	HIVEP3 (V535fs)	Deletion (frameshift variant)	HIVEP3-related disorder	GUncertain significance
Select item 402946	NM_024503.5(HIVEP3):c.1437C>T (p.Ser479=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder +1 more	GBenign
Select item 3039495	NM_024503.5(HIVEP3):c.1335C>T (p.Thr445=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GLikely benign
Select item 402947	NM_024503.5(HIVEP3):c.1329G>C (p.Leu443=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder +1 more	GBenign
Select item 788715	NM_024503.5(HIVEP3):c.1219C>A (p.Pro407Thr)	HIVEP3 (P407T)	Single nucleotide variant (missense variant)	HIVEP3-related disorder +1 more	GLikely benign
Select item 3045390	NM_024503.5(HIVEP3):c.1191C>T (p.Ser397=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GBenign
Select item 3034720	NM_024503.5(HIVEP3):c.1083G>A (p.Lys361=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GLikely benign
Select item 2638733	NM_024503.5(HIVEP3):c.1047C>G (p.Pro349=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder +1 more	GLikely benign
Select item 788505	NM_024503.5(HIVEP3):c.927C>T (p.Ser309=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder +1 more	GBenign
Select item 2633142	NM_024503.5(HIVEP3):c.856GAG[1] (p.Glu287del)	HIVEP3 (E287del)	Microsatellite (inframe_deletion)	HIVEP3-related disorder	GUncertain significance
Select item 3048349	NM_024503.5(HIVEP3):c.469C>A (p.Leu157Ile)	HIVEP3 (L157I)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GLikely benign
Select item 2638734	NM_024503.5(HIVEP3):c.462C>T (p.Pro154=)	HIVEP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3041824	NM_024503.5(HIVEP3):c.414C>A (p.Leu138=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GBenign
Select item 2638735	NM_024503.5(HIVEP3):c.288G>A (p.Pro96=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder +1 more	GLikely benign
Select item 3038875	NM_024503.5(HIVEP3):c.126A>T (p.Thr42=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder	GLikely benign
Select item 788506	NM_024503.5(HIVEP3):c.105C>A (p.Val35=)	HIVEP3	Single nucleotide variant (synonymous variant)	HIVEP3-related disorder +1 more	GBenign
Select item 3060022	NM_024503.5(HIVEP3):c.103G>A (p.Val35Ile)	HIVEP3 (V35I)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GBenign
Select item 3035233	NM_024503.5(HIVEP3):c.37G>A (p.Ala13Thr)	HIVEP3 (A13T)	Single nucleotide variant (missense variant)	HIVEP3-related disorder	GBenign
Select item 3024571	GRCh37/hg19 1p34.2(chr1:40688246-42630383)x1	CITED4, COL9A2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	CLSPN, COL8A2 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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