ClinVar for MedGen (Select 370149) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382897	NM_000342.4(SLC4A1):c.2020del (p.Val674fs)	SLC4A1 (V674fs)	Deletion (frameshift variant)	Southeast Asian ovalocytosis +10 more	GPathogenic
Select item 3382270	NM_001001548.3(CD36):c.1313_1316dup (p.Leu440fs)	CD36 (L285fs +5 more)	Duplication (frameshift variant +1 more)	Platelet-type bleeding disorder 10 +2 more	GLikely pathogenic
Select item 3241644	NM_001360016.2(G6PD):c.735_741del (p.Arg246fs)	G6PD (R246fs +1 more)	Deletion (frameshift variant)	Malaria, susceptibility to	GLikely pathogenic
Select item 3075739	NM_001360016.2(G6PD):c.-32G>T	G6PD, IKBKG +2 more (G20V)	Single nucleotide variant (missense variant +2 more)	Malaria, susceptibility to +1 more	GUncertain significance
Select item 2500042	NM_000201.3(ICAM1):c.118C>T (p.Arg40Trp)	ICAM1, LIMASI (R40W)	Single nucleotide variant (missense variant)	Malaria, susceptibility to	GUncertain significance
Select item 1722747	NM_001360016.2(G6PD):c.[376A>G;680G>T]	G6PD (R227L +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722746	NM_001360016.2(G6PD):c.634A>G (p.Met212Val)	G6PD (M212V +1 more)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +2 more	GConflicting classifications of pathogenicity
Select item 1722739	NM_001360016.2(G6PD):c.[143T>C;563C>T]	G6PD (I48T +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722734	NM_001360016.2(G6PD):c.497G>A (p.Arg166His)	G6PD (R166H +1 more)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 1722726	NM_001360016.2(G6PD):c.[376A>G;463C>G]	G6PD (N126D +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722724	NM_001360016.2(G6PD):c.409C>T (p.Leu137Phe)	G6PD (L137F +1 more)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +1 more	GLikely pathogenic
Select item 1722723	NM_001360016.2(G6PD):c.[375G>T;379G>T383T>C384C>T]	G6PD (L128P +5 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722711	NM_001360016.2(G6PD):c.[143T>C;202G>A]	G6PD (I48T +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722698	NM_001360016.2(G6PD):c.[376A>G;563C>T]	G6PD (N126D +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1722697	NM_001360016.2(G6PD):c.[202G>A;376A>G563C>T]	G6PD (V68M +5 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1722696	NM_001360016.2(G6PD):c.[202G>A;563C>T]	G6PD (V68M +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1722693	NM_001360016.2(G6PD):c.[311G>A;376A>G]	G6PD (N126D +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1722642	NM_001360016.2(G6PD):c.[1376G>T;1502T>G]	G6PD (R459L +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722638	NM_001360016.2(G6PD):c.1387C>T (p.Arg463Cys)	G6PD (R463C +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1722628	NM_001360016.2(G6PD):c.[1347G>C;1360C>T]	G6PD (R454C +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722622	NM_001360016.2(G6PD):c.[1264C>G;202G>A376A>G]	G6PD (V68M +5 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722617	NM_001360016.2(G6PD):c.[1159C>T;376A>G]	G6PD (R387C +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722606	NM_001360016.2(G6PD):c.[1048G>C;406C>T]	G6PD (D350H +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722597	NM_001360016.2(G6PD):c.[376A>G;871G>A]	G6PD (V291M +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722596	NM_001360016.2(G6PD):c.[202G>A;871G>A]	G6PD (V291M +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1675090	NM_000201.3(ICAM1):c.1212G>A (p.Pro404=)	ICAM1	Single nucleotide variant (synonymous variant)	Malaria, susceptibility to	GUncertain significance
Select item 1675089	NM_000201.3(ICAM1):c.1546C>T (p.Gln516Ter)	ICAM1 (Q516*)	Single nucleotide variant (nonsense)	Malaria, susceptibility to	GUncertain significance
Select item 1675086	NM_001136219.3(FCGR2A):c.780+1G>A	FCGR2A	Single nucleotide variant (splice donor variant)	not provided +3 more	GUncertain significance
Select item 1675085	NM_001136219.3(FCGR2A):c.497C>T (p.Ser166Phe)	FCGR2A (S165F +1 more)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus +2 more	GUncertain significance
Select item 1667854	NM_000342.4(SLC4A1):c.1800+17C>T	SLC4A1	Single nucleotide variant (intron variant)	Autosomal dominant distal renal tubular acidosis +11 more	GLikely benign
Select item 1522836	NM_000342.4(SLC4A1):c.2204C>T (p.Ala735Val)	SLC4A1 (A735V)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +11 more	GUncertain significance
Select item 1499211	NM_000342.4(SLC4A1):c.877-3dup	SLC4A1	Duplication (intron variant)	not provided +11 more	GUncertain significance
Select item 1495044	NM_000342.4(SLC4A1):c.523C>A (p.Pro175Thr)	SLC4A1 (P175T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +12 more	GConflicting classifications of pathogenicity
Select item 1484578	NM_000342.4(SLC4A1):c.464G>A (p.Arg155Gln)	SLC4A1 (R155Q)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 1436736	NM_000342.4(SLC4A1):c.829G>A (p.Asp277Asn)	SLC4A1 (D277N)	Single nucleotide variant (missense variant)	BLOOD GROUP--SWANN SYSTEM +11 more	GUncertain significance
Select item 1426253	NM_000342.4(SLC4A1):c.2057C>T (p.Thr686Met)	SLC4A1 (T686M)	Single nucleotide variant (missense variant)	Southeast Asian ovalocytosis +11 more	GUncertain significance
Select item 1420205	NM_000342.4(SLC4A1):c.2344C>T (p.Arg782Cys)	SLC4A1 (R782C)	Single nucleotide variant (missense variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 1398795	NM_001360016.2(G6PD):c.1104G>C (p.Glu368Asp)	G6PD (E398D +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GUncertain significance
Select item 1390841	NM_000342.4(SLC4A1):c.2185G>A (p.Val729Met)	SLC4A1 (V729M)	Single nucleotide variant (missense variant)	not provided +12 more	GUncertain significance
Select item 1361360	NM_000342.4(SLC4A1):c.1331C>G (p.Thr444Ser)	SLC4A1 (T444S)	Single nucleotide variant (missense variant)	Southeast Asian ovalocytosis +11 more	GUncertain significance
Select item 1352118	NM_000342.4(SLC4A1):c.283G>C (p.Gly95Arg)	SLC4A1 (G95R)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 1343492	NM_000518.5(HBB):c.*132C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided +10 more	GUncertain significance
Select item 1330414	NM_000342.4(SLC4A1):c.486-18C>T	SLC4A1	Single nucleotide variant (intron variant)	Southeast Asian ovalocytosis +11 more	GBenign/Likely benign
Select item 1330020	NM_000518.5(HBB):c.316-3C>T	LOC110006319, HBB +1 more	Single nucleotide variant (intron variant)	Heinz body anemia +9 more	GUncertain significance
Select item 1324435	NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser)	G6PD (T279S +1 more)	Single nucleotide variant (missense variant)	G6PD deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1275803	NM_000342.4(SLC4A1):c.2716G>T (p.Glu906Ter)	SLC4A1 (E906*)	Single nucleotide variant (nonsense)	Southeast Asian ovalocytosis +11 more	GLikely pathogenic
Select item 1206418	NM_001360016.2(G6PD):c.1315C>T (p.Arg439Cys)	G6PD (R439C +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1162819	NM_000342.4(SLC4A1):c.985G>A (p.Glu329Lys)	SLC4A1 (E329K)	Single nucleotide variant (missense variant)	BLOOD GROUP--WALDNER TYPE +11 more	GUncertain significance
Select item 1150864	NM_000342.4(SLC4A1):c.1311G>A (p.Val437=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided +11 more	GLikely benign
Select item 1143663	NM_000342.4(SLC4A1):c.102G>A (p.Pro34=)	SLC4A1	Single nucleotide variant (synonymous variant)	Malaria, susceptibility to +11 more	GLikely benign
Select item 1084799	NM_000342.4(SLC4A1):c.1272C>T (p.Gly424=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided +11 more	GLikely benign
Select item 1081446	NM_000342.4(SLC4A1):c.876+8A>G	SLC4A1	Single nucleotide variant (intron variant)	Autosomal dominant distal renal tubular acidosis +11 more	GLikely benign
Select item 1075240	NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys)	G6PD (R136C +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1068217	NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp)	G6PD (A335D +1 more)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 1065168	NM_001360016.2(G6PD):c.[376A>G;968T>C]	G6PD (L323P +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic
Select item 1050262	NM_000342.4(SLC4A1):c.538C>T (p.Arg180Cys)	SLC4A1 (R180C)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 1044950	NM_000342.4(SLC4A1):c.1160G>A (p.Arg387Gln)	SLC4A1 (R387Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +12 more	GConflicting classifications of pathogenicity
Select item 1017727	NM_000342.4(SLC4A1):c.2702G>C (p.Arg901Pro)	SLC4A1 (R901P)	Single nucleotide variant (missense variant)	BLOOD GROUP--WALDNER TYPE +11 more	GUncertain significance
Select item 1017222	NM_000342.4(SLC4A1):c.1759A>T (p.Met587Leu)	SLC4A1 (M587L)	Single nucleotide variant (missense variant)	BLOOD GROUP--WALDNER TYPE +12 more	GUncertain significance
Select item 1012319	NM_001001548.3(CD36):c.1142T>G (p.Leu381Ter)	CD36 (L226* +5 more)	Single nucleotide variant (nonsense +1 more)	Platelet-type bleeding disorder 10 +2 more	GPathogenic/Likely pathogenic
Select item 1008971	NM_000342.4(SLC4A1):c.1181T>C (p.Leu394Pro)	SLC4A1 (L394P)	Single nucleotide variant (missense variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 994056	NM_000342.4(SLC4A1):c.2387G>C (p.Gly796Ala)	SLC4A1 (G796A)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 992923	NM_000342.4(SLC4A1):c.2312G>T (p.Gly771Val)	SLC4A1 (G771V)	Single nucleotide variant (missense variant)	Cryohydrocytosis +10 more	GConflicting classifications of pathogenicity
Select item 988235	NM_000342.4(SLC4A1):c.2614G>A (p.Val872Ile)	SLC4A1 (V872I)	Single nucleotide variant (missense variant)	Southeast Asian ovalocytosis +10 more	GUncertain significance
Select item 971626	NM_000342.4(SLC4A1):c.2726T>C (p.Met909Thr)	SLC4A1 (M909T)	Single nucleotide variant (missense variant)	not provided +11 more	GLikely pathogenic
Select item 968939	NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg)	G6PD (L128R +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +2 more	GPathogenic/Likely pathogenic
Select item 958165	NM_001360016.2(G6PD):c.1347G>C (p.Gln449His)	G6PD (Q449H +1 more)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 942972	NM_000342.4(SLC4A1):c.454G>A (p.Glu152Lys)	SLC4A1 (E152K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +12 more	GUncertain significance
Select item 916529	NM_000625.4(NOS2):c.1172dup (p.Leu392fs)	NOS2 (L392fs)	Duplication (frameshift variant)	Malaria, susceptibility to	GUncertain significance
Select item 891521	NM_000342.4(SLC4A1):c.*54A>G	SLC4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant distal renal tubular acidosis +11 more	GUncertain significance
Select item 890133	NM_000342.4(SLC4A1):c.1471G>A (p.Val491Met)	SLC4A1 (V491M)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis +11 more	GUncertain significance
Select item 854215	NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr)	G6PD (N135T +1 more)	Single nucleotide variant (missense variant)	G6PD deficiency +3 more	GPathogenic
Select item 828004	NM_000201.3(ICAM1):c.1432C>T (p.Arg478Trp)	ICAM1 (R478W)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +1 more	GUncertain significance
Select item 811350	NM_000342.4(SLC4A1):c.2340G>A (p.Leu780=)	SLC4A1	Single nucleotide variant (synonymous variant)	not specified +12 more	GBenign/Likely benign
Select item 780428	NM_000342.4(SLC4A1):c.12G>A (p.Leu4=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided +11 more	GBenign/Likely benign
Select item 762836	NM_000518.5(HBB):c.402G>A (p.Val134=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	Hereditary persistence of fetal hemoglobin +10 more	GLikely benign
Select item 760851	NM_000342.4(SLC4A1):c.2482-7C>T	SLC4A1	Single nucleotide variant (intron variant)	BLOOD GROUP--WALDNER TYPE +11 more	GBenign/Likely benign
Select item 739001	NM_000342.4(SLC4A1):c.297C>T (p.Leu99=)	SLC4A1	Single nucleotide variant (synonymous variant)	BLOOD GROUP--WALDNER TYPE +11 more	GLikely benign
Select item 715536	NM_000342.4(SLC4A1):c.798T>C (p.Phe266=)	SLC4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant distal renal tubular acidosis +12 more	GBenign/Likely benign
Select item 695336	NM_000518.5(HBB):c.-273T>C	HBB, LOC106099062 +1 more	Single nucleotide variant	Heinz body anemia +9 more	GBenign/Likely benign
Select item 632007	NM_001001548.3(CD36):c.220C>T (p.Gln74Ter)	CD36 (Q74*)	Single nucleotide variant (nonsense +3 more)	Platelet-type bleeding disorder 10 +2 more	GConflicting classifications of pathogenicity
Select item 620131	NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter)	SLC4A1 (R344*)	Single nucleotide variant (nonsense)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 619854	NM_000518.5(HBB):c.169G>A (p.Gly57Ser)	LOC106099062, LOC107133510 +1 more (G57S)	Single nucleotide variant (missense variant)	not specified +10 more	GUncertain significance
Select item 591765	NM_000342.4(SLC4A1):c.1541G>A (p.Arg514His)	SLC4A1 (R514H)	Single nucleotide variant (missense variant)	BLOOD GROUP--WALDNER TYPE +11 more	GUncertain significance
Select item 587500	NM_001001548.3(CD36):c.784dup (p.Gln262fs)	CD36 (Q186fs +4 more)	Duplication (frameshift variant +2 more)	Malaria, susceptibility to	GLikely pathogenic
Select item 546797	NM_000342.4(SLC4A1):c.1480G>A (p.Gly494Ser)	SLC4A1 (G494S)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 544826	NM_001360016.2(G6PD):c.448G>A (p.Val150Ile)	G6PD (V150I +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +2 more	GLikely pathogenic
Select item 495972	NM_000518.5(HBB):c.-100G>A	LOC107133510, HBB +1 more	Single nucleotide variant	not specified +10 more	GUncertain significance
Select item 495969	NM_000518.5(HBB):c.*62A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	Dominant beta-thalassemia +10 more	GUncertain significance
Select item 452023	NM_000342.4(SLC4A1):c.2612G>A (p.Arg871His)	SLC4A1 (R871H)	Single nucleotide variant (missense variant)	Southeast Asian ovalocytosis +11 more	GUncertain significance
Select item 449323	NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys)	G6PD (Y100C +1 more)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +2 more	GPathogenic/Likely pathogenic
Select item 446748	NM_000518.4(HBB):c.[205C>T;20A>T]	HBB, LOC106099062 +1 more (E7V +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN JAMAICA PLAIN	Gother
Select item 446747	NM_000518.4(HBB):c.[20A>T;271G>A]	HBB, LOC106099062 +1 more (E91K +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN S (CAMEROON)	GPathogenic
Select item 446746	NM_000518.4(HBB):c.[34G>A;364G>A]	HBB, LOC106099062 +2 more (V12I +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN O (TIBESTI)	Gother
Select item 446739	NM_000518.4(HBB):c.[364G>C;79G>A]	HBB, LOC107133510 +2 more (E122Q +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN T (CAMBODIA)	Gother
Select item 446738	NM_000518.4(HBB):c.[20A>T;428C>T]	HBB, LOC106099062 +2 more (E7V +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN S (TRAVIS)	GPathogenic
Select item 446737	NM_000518.4(HBB):c.[20A>T;249G>Y]	HBB, LOC106099062 +1 more (K83N +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN S (PROVIDENCE)	GPathogenic
Select item 446736	NM_000518.4(HBB):c.[20A>T;364G>A]	HBB, LOC107133510 +2 more (E122K +1 more)	Single nucleotide variant (missense variant)	Sickle cell-Hemoglobin O Arab disease	GPathogenic
Select item 446735	NM_000518.4(HBB):c.[20A>T;70G>A]	HBB, LOC106099062 +1 more (E7V +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN S (ANTILLES)	GPathogenic
Select item 446731	NM_000518.4(HBB):c.[176C>G;20A>T]	HBB, LOC106099062 +1 more (E7V +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN ZIGUINCHOR	Gother

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