2057[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 60235	GRCh38/hg38 19p13.2(chr19:11138895-11549951)x3	ANGPTL8, CCDC159 +52 more	Copy number gain	See cases	GUncertain significance
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 890683	NM_000121.4(EPOR):c.*776A>G	EPOR	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 328130	NM_000121.4(EPOR):c.*684C>A	EPOR	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GBenign
Select item 328131	NM_000121.4(EPOR):c.*670G>A	EPOR	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GBenign
Select item 328132	NM_000121.4(EPOR):c.*619C>T	EPOR	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 328133	NM_000121.4(EPOR):c.*577A>G	EPOR	Single nucleotide variant (non-coding transcript variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GBenign
Select item 328134	NM_000121.4(EPOR):c.*504G>A	EPOR	Single nucleotide variant (non-coding transcript variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GBenign
Select item 328135	NM_000121.4(EPOR):c.*425C>T	EPOR	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GBenign
Select item 328136	NM_000121.4(EPOR):c.186_187dup	EPOR	Duplication (3 prime UTR variant +1 more)	Familial erythrocytosis	GUncertain significance
Select item 328137	NM_000121.4(EPOR):c.*35G>A	EPOR	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GBenign
Select item 891934	NM_000121.4(EPOR):c.*32T>C	EPOR	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GBenign
Select item 889490	NM_000121.4(EPOR):c.1467T>C (p.Tyr489=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 268130	NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser)	EPOR (P488S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 +2 more	GBenign/Likely benign
Select item 16598	NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser)	EPOR (N487S)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 889491	NM_000121.4(EPOR):c.1456T>C (p.Ser486Pro)	EPOR (S486P)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GLikely benign
Select item 2313363	NM_000121.4(EPOR):c.1454A>G (p.Tyr485Cys)	EPOR (Y485C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 328138	NM_000121.4(EPOR):c.1444G>A (p.Asp482Asn)	EPOR (D482N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 328139	NM_000121.4(EPOR):c.1428C>T (p.Ala476=)	EPOR	Single nucleotide variant (non-coding transcript variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GLikely benign
Select item 328140	NM_000121.4(EPOR):c.1427C>T (p.Ala476Val)	EPOR (A476V)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GBenign
Select item 3089794	NM_000121.4(EPOR):c.1424G>C (p.Gly475Ala)	EPOR (G475A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 328141	NM_000121.4(EPOR):c.1398T>C (p.Thr466=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2627536	NM_000121.4(EPOR):c.1362C>G (p.Tyr454Ter)	EPOR (Y454*)	Single nucleotide variant (nonsense +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 2724767	NM_000121.4(EPOR):c.1341T>C (p.Pro447=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2488766	NM_000121.4(EPOR):c.1334T>G (p.Leu445Arg)	EPOR (L445R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 16595	NM_000121.4(EPOR):c.1317G>A (p.Trp439Ter)	EPOR (W439*)	Single nucleotide variant (nonsense +1 more)	Primary familial polycythemia due to EPO receptor mutation	GAffects
Select item 268131	NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter)	EPOR (W439*)	Single nucleotide variant (nonsense +1 more)	Acute megakaryoblastic leukemia without down syndrome	GLikely pathogenic
Select item 268129	NM_000121.4(EPOR):c.1310G>A (p.Arg437His)	EPOR (R437H)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation +1 more	GBenign
Select item 16599	NM_000121.4(EPOR):c.1299_1305del (p.Gln434fs)	EPOR (Q434fs)	Microsatellite (frameshift variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GAffects
Select item 16601	NM_000121.4(EPOR):c.1283_1289dup (p.Ser432fs)	EPOR (S432fs)	Duplication (frameshift variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GAffects
Select item 16596	NM_000121.4(EPOR):c.1288dup (p.Asp430fs)	EPOR (D430fs)	Duplication (frameshift variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GAffects
Select item 890160	NM_000121.4(EPOR):c.1287G>A (p.Leu429=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 16597	NM_000121.4(EPOR):c.1281dup (p.Ile428fs)	EPOR (I428fs)	Duplication (frameshift variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GAffects
Select item 16600	NM_000121.4(EPOR):c.1278C>G (p.Tyr426Ter)	EPOR (Y426*)	Single nucleotide variant (nonsense +1 more)	Primary familial polycythemia due to EPO receptor mutation	GAffects
Select item 2529861	NM_000121.4(EPOR):c.1261G>C (p.Ala421Pro)	EPOR (A421P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3047378	NM_000121.4(EPOR):c.1236G>A (p.Ser412=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	EPOR-related disorder	GLikely benign
Select item 2274314	NM_000121.4(EPOR):c.1207G>A (p.Ala403Thr)	EPOR (A403T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3089793	NM_000121.4(EPOR):c.1157C>T (p.Pro386Leu)	EPOR (P386L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1918798	NM_000121.4(EPOR):c.1140G>A (p.Pro380=)	EPOR	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 328142	NM_000121.4(EPOR):c.1139C>T (p.Pro380Leu)	EPOR (P380L)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GBenign
Select item 328143	NM_000121.4(EPOR):c.1138C>G (p.Pro380Ala)	EPOR (P380A)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation +2 more	GBenign
Select item 2319672	NM_000121.4(EPOR):c.1127T>C (p.Leu376Pro)	EPOR (L376P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294351	NM_000121.4(EPOR):c.1072C>T (p.Pro358Ser)	EPOR (P358S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 328144	NM_000121.4(EPOR):c.1041G>A (p.Pro347=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 328145	NM_000121.4(EPOR):c.1022C>T (p.Thr341Met)	EPOR (T341M)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GLikely benign
Select item 2317306	NM_000121.4(EPOR):c.1010G>A (p.Arg337His)	EPOR (R337H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2649327	NM_000121.4(EPOR):c.999C>A (p.Val333=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 328146	NM_000121.4(EPOR):c.980C>T (p.Pro327Leu)	EPOR (P327L)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 2713525	NM_000121.4(EPOR):c.975G>A (p.Glu325=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2921036	NM_000121.4(EPOR):c.957C>G (p.Pro319=)	EPOR	Single nucleotide variant (non-coding transcript variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GLikely benign
Select item 3239294	NM_000121.4(EPOR):c.953G>A (p.Ser318Asn)	EPOR (S318N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 890161	NM_000121.4(EPOR):c.901A>G (p.Lys301Glu)	EPOR (K301E)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 2405607	NM_000121.4(EPOR):c.874G>A (p.Glu292Lys)	EPOR (E292K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 328147	NM_000121.4(EPOR):c.864C>T (p.Ser288=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 890737	NM_000121.4(EPOR):c.861G>A (p.Pro287=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 2251875	NM_000121.4(EPOR):c.808G>A (p.Ala270Thr)	EPOR (A270T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 734865	NM_000121.4(EPOR):c.801C>G (p.Thr267=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3089799	NM_000121.4(EPOR):c.743T>G (p.Leu248Arg)	EPOR (L248R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2974918	NM_000121.4(EPOR):c.731C>T (p.Thr244Met)	EPOR (T244M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3089798	NM_000121.4(EPOR):c.716C>G (p.Pro239Arg)	EPOR (P239R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240967	NM_000121.4(EPOR):c.715C>T (p.Pro239Ser)	EPOR (P239S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 722326	NM_000121.4(EPOR):c.697T>G (p.Trp233Gly)	EPOR (W233G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 890738	NM_000121.4(EPOR):c.663C>T (p.Arg221=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 328148	NM_000121.4(EPOR):c.657C>A (p.Ala219=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3089797	NM_000121.4(EPOR):c.655G>A (p.Ala219Thr)	EPOR (A219T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 890739	NM_000121.4(EPOR):c.610G>C (p.Glu204Gln)	EPOR (E204Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 328149	NM_000121.4(EPOR):c.596T>C (p.Leu199Pro)	EPOR (L199P)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 929899	NM_000121.4(EPOR):c.586-1G>A	EPOR	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 328150	NM_000121.4(EPOR):c.568G>T (p.Ala190Ser)	EPOR (A190S)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GBenign
Select item 2279297	NM_000121.4(EPOR):c.562A>C (p.Asn188His)	EPOR (N188H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 890740	NM_000121.4(EPOR):c.559G>T (p.Gly187Cys)	EPOR (G187C)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 891976	NM_000121.4(EPOR):c.558C>A (p.Ala186=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 328151	NM_000121.4(EPOR):c.558C>T (p.Ala186=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2321525	NM_000121.4(EPOR):c.554C>T (p.Ser185Leu)	EPOR (S185L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2920904	NM_000121.4(EPOR):c.499C>T (p.Leu167Phe)	EPOR (L167F)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 423071	NM_000121.4(EPOR):c.465_481dup (p.His161fs)	EPOR (H161fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2649328	NM_000121.4(EPOR):c.451C>T (p.Leu151=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3089795	NM_000121.4(EPOR):c.440C>T (p.Ala147Val)	EPOR (A147V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 328152	NM_000121.4(EPOR):c.438C>T (p.Asp146=)	EPOR	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 2298957	NM_000121.4(EPOR):c.437A>T (p.Asp146Val)	EPOR (D146V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2793660	NM_000121.4(EPOR):c.428-10A>T	EPOR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 891977	NM_000121.4(EPOR):c.388G>A (p.Ala130Thr)	EPOR, LOC130063570 (A130T)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 891978	NM_000121.4(EPOR):c.335C>T (p.Ala112Val)	EPOR, LOC130063571 (A112V)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 713659	NM_000121.4(EPOR):c.296C>T (p.Ala99Val)	EPOR, LOC130063571 (A99V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1249952	NM_000121.4(EPOR):c.252-275dup	EPOR	Duplication (intron variant)	not provided	GBenign
Select item 1227813	NM_000121.4(EPOR):c.252-257del	EPOR	Deletion (intron variant)	not provided	GBenign
Select item 1179688	NM_000121.4(EPOR):c.252-261A>T	EPOR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 891979	NM_000121.4(EPOR):c.251+7C>A	EPOR	Single nucleotide variant (non-coding transcript variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GBenign
Select item 728998	NM_000121.4(EPOR):c.249C>A (p.Leu83=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 432048	NM_000121.4(EPOR):c.244C>T (p.Gln82Ter)	EPOR (Q82*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 741068	NM_000121.4(EPOR):c.233G>C (p.Ser78Thr)	EPOR (S78T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 328153	NM_000121.4(EPOR):c.215T>C (p.Val72Ala)	EPOR (V72A)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GLikely benign
Select item 328154	NM_000121.4(EPOR):c.168G>T (p.Arg56=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 328155	NM_000121.4(EPOR):c.137G>A (p.Gly46Glu)	EPOR (G46E)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation +1 more	GBenign
Select item 889548	NM_000121.4(EPOR):c.116-10C>T	EPOR	Single nucleotide variant (intron variant)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 328156	NM_000121.4(EPOR):c.115+7A>G	EPOR	Single nucleotide variant (intron variant)	Primary familial polycythemia due to EPO receptor mutation	GBenign
Select item 2617869	NM_000121.4(EPOR):c.70T>C (p.Trp24Arg)	EPOR (W24R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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