ClinVar for MedGen (Select 1641215) - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2584840	NM_005475.3(SH2B3):c.482C>T (p.Ala161Val)	SH2B3 (A161V)	Single nucleotide variant (missense variant)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 1686181	NM_005475.3(SH2B3):c.1A>G (p.Met1Val)	SH2B3 (M1V)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GPathogenic
Select item 1265448	NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg)	SH2B3 (W262R +1 more)	Single nucleotide variant (missense variant)	Primary familial polycythemia due to EPO receptor mutation +3 more	GBenign
Select item 1028834	NM_004972.4(JAK2):c.1641+6T>C	INSL6, JAK2	Single nucleotide variant (intron variant)	Acquired polycythemia vera +7 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 890739	NM_000121.4(EPOR):c.610G>C (p.Glu204Gln)	EPOR (E204Q)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation +1 more	GUncertain significance
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 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 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 890208	NM_000121.4(EPOR):c.-55G>A	EPOR	Single nucleotide variant (5 prime UTR variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GBenign
Select item 890207	NM_000121.4(EPOR):c.-25G>A	EPOR	Single nucleotide variant (5 prime UTR variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
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 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 889550	NM_000121.4(EPOR):c.-9G>A	EPOR	Single nucleotide variant (5 prime UTR variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 889549	NM_000121.4(EPOR):c.13G>A (p.Gly5Arg)	EPOR (G5R)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
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 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 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 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 619973	NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys)	SH2B3 (E193K +1 more)	Single nucleotide variant (missense variant)	Primary familial polycythemia due to EPO receptor mutation +1 more	GPathogenic/Likely pathogenic
Select item 501686	NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys)	SH2B3 (E198K +1 more)	Single nucleotide variant (missense variant)	Primary myelofibrosis +3 more	GUncertain significance
Select item 328159	NM_000121.4(EPOR):c.-68G>A	EPOR	Single nucleotide variant (5 prime UTR variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 328158	NM_000121.4(EPOR):c.-8G>T	EPOR	Single nucleotide variant (5 prime UTR variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 328157	NM_000121.4(EPOR):c.24C>T (p.Leu8=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
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 328155	NM_000121.4(EPOR):c.137G>A (p.Gly46Glu)	EPOR (G46E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
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 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 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 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 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 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 328148	NM_000121.4(EPOR):c.657C>A (p.Ala219=)	EPOR	Single nucleotide variant (synonymous variant +1 more)	Primary familial polycythemia due to EPO receptor mutation +1 more	GBenign
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 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 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 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 328143	NM_000121.4(EPOR):c.1138C>G (p.Pro380Ala)	EPOR (P380A)	Single nucleotide variant (missense variant +1 more)	EPOR-related condition +2 more	GBenign
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 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 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 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 328138	NM_000121.4(EPOR):c.1444G>A (p.Asp482Asn)	EPOR (D482N)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation +1 more	GLikely benign
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 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 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 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 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 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 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 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 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 268129	NM_000121.4(EPOR):c.1310G>A (p.Arg437His)	EPOR (R437H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 134559	NM_004972.4(JAK2):c.380G>A (p.Gly127Asp)	INSL6, JAK2 (G127D)	Single nucleotide variant (missense variant +2 more)	not provided +6 more	GBenign/Likely benign
Select item 134555	NM_004972.4(JAK2):c.3188G>A (p.Arg1063His)	INSL6, JAK2 (R1063H +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related condition +8 more	GBenign/Likely benign
Select item 30446	NM_005475.3(SH2B3):c.622G>T (p.Glu208Ter)	SH2B3 (E208*)	Single nucleotide variant (nonsense)	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 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 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 16598	NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser)	EPOR (N487S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
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 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 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 14662	NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	INSL6, JAK2 (V617F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity

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Items: 72