G6PD[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 656

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3026503	NC_000023.11:g.154518193C>T	G6PD	Single nucleotide variant	not provided	GLikely benign
Select item 914253	NM_001360016.2(G6PD):c.*599C>T	G6PD	Single nucleotide variant (3 prime UTR variant)	G6PD deficiency	GUncertain significance
Select item 914254	NM_001360016.2(G6PD):c.*548C>T	G6PD	Single nucleotide variant (3 prime UTR variant)	G6PD deficiency	GUncertain significance
Select item 368093	NM_001360016.2(G6PD):c.*535G>T	G6PD	Single nucleotide variant (3 prime UTR variant)	G6PD deficiency	GUncertain significance
Select item 368094	NM_001360016.2(G6PD):c.*520G>A	G6PD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914255	NM_001360016.2(G6PD):c.*466C>G	G6PD	Single nucleotide variant (3 prime UTR variant)	G6PD deficiency	GUncertain significance
Select item 368095	NM_001360016.2(G6PD):c.*365G>A	G6PD	Single nucleotide variant (3 prime UTR variant)	G6PD deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1722702	NM_001360016.2(G6PD):c.*357G>A	G6PD	Single nucleotide variant (3 prime UTR variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 368096	NM_001360016.2(G6PD):c.*357=	G6PD	Single nucleotide variant (no sequence alteration)	G6PD deficiency +2 more	GBenign/Likely benign
Select item 1722655	NM_001360016.2(G6PD):c.*304T>C	G6PD	Single nucleotide variant (3 prime UTR variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GBenign
Select item 914745	NM_001360016.2(G6PD):c.*281C>T	G6PD	Single nucleotide variant (3 prime UTR variant)	G6PD deficiency	GUncertain significance
Select item 1722666	NM_001360016.2(G6PD):c.*272G>A	G6PD	Single nucleotide variant (3 prime UTR variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 914746	NM_001360016.2(G6PD):c.*75C>T	G6PD	Single nucleotide variant (3 prime UTR variant)	G6PD deficiency	GUncertain significance
Select item 1234895	NM_001360016.2(G6PD):c.*66GGA[1]	G6PD	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 93487	NM_001360016.2(G6PD):c.*50G>A	G6PD	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 93486	NM_001360016.2(G6PD):c.*47G>A	G6PD	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 368097	NM_001360016.2(G6PD):c.*25C>T	G6PD	Single nucleotide variant (3 prime UTR variant)	G6PD deficiency	GUncertain significance
Select item 2748483	NM_001360016.2(G6PD):c.1545C>T (p.Leu515=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 3280334	NM_001360016.2(G6PD):c.1537C>A (p.His513Asn)	G6PD (H513N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809844	NM_001360016.2(G6PD):c.1537C>T (p.His513Tyr)	G6PD (H513Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023473	NM_001360016.2(G6PD):c.1536C>G (p.Pro512=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2117779	NM_001360016.2(G6PD):c.1536C>T (p.Pro512=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2085325	NM_001360016.2(G6PD):c.1517C>G (p.Thr506Ser)	G6PD (T506S +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1638209	NM_001360016.2(G6PD):c.1506G>A (p.Gln502=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 1723199	NM_001360016.2(G6PD):c.1502T>G (p.Phe501Cys)	G6PD (F501C +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 3000631	NM_001360016.2(G6PD):c.1496T>A (p.Val499Glu)	G6PD (V499E +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1426499	NM_001360016.2(G6PD):c.1493G>C (p.Arg498Thr)	G6PD (R498T +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1722640	NM_001360016.2(G6PD):c.1490_1492del (p.Lys497del)	G6PD (K497del +1 more)	Deletion (inframe_deletion)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 2793949	NM_001360016.2(G6PD):c.1491G>A (p.Lys497=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2441602	NM_001360016.2(G6PD):c.1487T>G (p.Met496Arg)	G6PD (M496R +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1374258	NM_001360016.2(G6PD):c.1485G>A (p.Leu495=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 1587171	NM_001360016.2(G6PD):c.1482G>A (p.Glu494=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GLikely benign
Select item 914747	NM_001360016.2(G6PD):c.1480G>A (p.Glu494Lys)	G6PD (E524K +1 more)	Single nucleotide variant (missense variant)	G6PD deficiency	GUncertain significance
Select item 1722645	NM_001360016.2(G6PD):c.1478_1479insAGGAGGCAGA (p.Asp493fs)	G6PD (D493fs +1 more)	Insertion (frameshift variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic
Select item 2963246	NM_001360016.2(G6PD):c.1470G>C (p.Thr490=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 1114871	NM_001360016.2(G6PD):c.1470G>A (p.Thr490=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 1079997	NM_001360016.2(G6PD):c.1467C>A (p.Pro489=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 1722689	NM_001360016.2(G6PD):c.1466C>T (p.Pro489Leu)	G6PD (P489L +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic
Select item 811096	NM_001360016.2(G6PD):c.1465C>T (p.Pro489Ser)	G6PD (P489S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GPathogenic
Select item 1626758	NM_001360016.2(G6PD):c.1464C>T (p.Gly488=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 1722688	NM_001360016.2(G6PD):c.1463G>T (p.Gly488Val)	G6PD (G488V +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic
Select item 2901945	NM_001360016.2(G6PD):c.1458-7T>C	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2143040	NM_001360016.2(G6PD):c.1458-7T>A	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2992328	NM_001360016.2(G6PD):c.1457+37_1458-10dup	G6PD	Duplication (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1614388	NM_001360016.2(G6PD):c.1458-12G>A	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 1642580	NM_001360016.2(G6PD):c.1458-13C>T	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 93498	NM_001360016.2(G6PD):c.1458-13C>G	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1722639	NM_001360016.2(G6PD):c.1457+7_1458-43del	G6PD	Deletion (splice donor variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 93497	NM_001360016.2(G6PD):c.1457+34A>G	G6PD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 995650	NM_001360016.2(G6PD):c.1457+31C>G	G6PD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1593332	NM_001360016.2(G6PD):c.1457+19C>T	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 3020030	NM_001360016.2(G6PD):c.1457+17G>A	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2853139	NM_001360016.2(G6PD):c.1457+15G>A	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2916808	NM_001360016.2(G6PD):c.1457+14G>T	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2914991	NM_001360016.2(G6PD):c.1457+12G>A	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2983067	NM_001360016.2(G6PD):c.1457+11G>C	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2777199	NM_001360016.2(G6PD):c.1457+11G>T	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 1627986	NM_001360016.2(G6PD):c.1457+10G>A	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2993935	NM_001360016.2(G6PD):c.1457+9A>T	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 1093093	NM_001360016.2(G6PD):c.1452T>C (p.Tyr484=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2913047	NM_001360016.2(G6PD):c.1446T>C (p.Tyr482=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 1121792	NM_001360016.2(G6PD):c.1443C>T (p.Pro481=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 10415	NM_000402.4(G6PD):c.1532C>G (p.Pro511Arg)	G6PD (P481R +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 2137205	NM_001360016.2(G6PD):c.1441C>T (p.Pro481Ser)	G6PD (P511S +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1098494	NM_001360016.2(G6PD):c.1441C>G (p.Pro481Ala)	G6PD (P481A +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GConflicting classifications of pathogenicity
Select item 3339513	NM_001360016.2(G6PD):c.1438A>T (p.Ile480Phe)	G6PD (I480F +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1624214	NM_001360016.2(G6PD):c.1437C>T (p.Pro479=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 93496	NM_001360016.2(G6PD):c.1431C>T (p.Pro477=)	G6PD	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1722651	NM_001360016.2(G6PD):c.1422G>A (p.Leu474=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GBenign
Select item 1672317	NM_001360016.2(G6PD):c.1422G>C (p.Leu474=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 1478217	NM_001360016.2(G6PD):c.1420C>G (p.Leu474Val)	G6PD (L474V +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 2125326	NM_001360016.2(G6PD):c.1412A>C (p.Gln471Pro)	G6PD (Q471P +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 439745	NM_001360016.2(G6PD):c.1405C>T (p.Leu469=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GLikely benign
Select item 2169964	NM_001360016.2(G6PD):c.1402C>T (p.Leu468=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 10409	NM_000402.4(G6PD):c.1490C>G (p.Pro497Arg)	G6PD (P467R +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 93495	NM_001360016.2(G6PD):c.1398C>T (p.Thr466=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2750020	NM_001360016.2(G6PD):c.1396A>G (p.Thr466Ala)	G6PD (T466A +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 2504081	NM_001360016.2(G6PD):c.1388G>T (p.Arg463Leu)	G6PD (R463L +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic
Select item 100059	NM_000402.4(G6PD):c.1478G>A (p.Arg493His)	G6PD (R463H +1 more)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +4 more	GPathogenic
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 1722637	NM_001360016.2(G6PD):c.1387C>A (p.Arg463Ser)	G6PD (R463S +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722636	NM_001360016.2(G6PD):c.1381G>A (p.Ala461Thr)	G6PD (A461T +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722635	NM_001360016.2(G6PD):c.1380G>C (p.Glu460Asp)	G6PD (E460D +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 804133	NM_001360016.2(G6PD):c.1378G>T (p.Glu460Ter)	G6PD (E490* +1 more)	Single nucleotide variant (nonsense)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic
Select item 1485870	NM_001360016.2(G6PD):c.1376G>A (p.Arg459His)	G6PD (R489H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 993677	NM_001360016.2(G6PD):c.1376del (p.Arg459fs)	G6PD (R459fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 100058	NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)	G6PD (R459L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 10422	NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro)	G6PD (R459P +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 1722634	NM_001360016.2(G6PD):c.1375C>G (p.Arg459Gly)	G6PD (R459G +1 more)	Single nucleotide variant (missense variant)	G6PD deficiency +1 more	GLikely pathogenic
Select item 1469858	NM_001360016.2(G6PD):c.1375C>T (p.Arg459Cys)	G6PD (R459C +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722633	NM_001360016.2(G6PD):c.1372C>T (p.Leu458Phe)	G6PD (L458F +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 2161093	NM_001360016.2(G6PD):c.1371G>A (p.Glu457=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 1586152	NM_001360016.2(G6PD):c.1368C>T (p.Asp456=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 1722632	NM_001360016.2(G6PD):c.1367A>T (p.Asp456Val)	G6PD (D456V +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722631	NM_001360016.2(G6PD):c.1366G>C (p.Asp456His)	G6PD (D456H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1685320	NM_001360016.2(G6PD):c.1366G>A (p.Asp456Asn)	G6PD (D456N +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 2180782	NM_001360016.2(G6PD):c.1365C>T (p.Ser455=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GConflicting classifications of pathogenicity
Select item 290577	NM_001360016.2(G6PD):c.1365-5C>T	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1126086	NM_001360016.2(G6PD):c.1365-7C>T	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign
Select item 2914237	NM_001360016.2(G6PD):c.1365-8C>A	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely benign

<< First< Prev

Page of 7