4171[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1541

<< First< Prev

Page of 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 148370	GRCh38/hg38 3q21.3(chr3:126797420-128946623)x1	ABTB1, ACAD9 +124 more	Copy number loss	See cases	GPathogenic
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 2203427	NC_000003.12:g.128479261G>A	GATA2	Single nucleotide variant	Deafness-lymphedema-leukemia syndrome +1 more	GBenign
Select item 417324	NC_000003.12:g.(?_128479422)_(128487076_?)del	GATA2	Deletion	Deafness-lymphedema-leukemia syndrome	GPathogenic
Select item 343109	NM_032638.5(GATA2):c.*1544A>G	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 343110	NM_032638.5(GATA2):c.*1543T>C	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 902522	NM_032638.5(GATA2):c.*1522A>G	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 902523	NM_032638.5(GATA2):c.*1418G>T	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 343111	NM_032638.5(GATA2):c.*1229A>G	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GBenign
Select item 343112	NM_032638.5(GATA2):c.*1173G>T	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 903375	NM_032638.5(GATA2):c.*1146A>G	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 343113	NM_032638.5(GATA2):c.*1144G>A	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 343114	NM_032638.5(GATA2):c.*1080G>A	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GBenign
Select item 903376	NM_032638.5(GATA2):c.*1002G>T	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 903377	NM_032638.5(GATA2):c.*988T>G	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 343115	NM_032638.5(GATA2):c.*884A>T	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 343116	NM_032638.5(GATA2):c.*882T>A	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GBenign
Select item 343117	NM_032638.5(GATA2):c.*715G>A	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GBenign
Select item 343118	NM_032638.5(GATA2):c.*697C>T	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GLikely benign
Select item 899764	NM_032638.5(GATA2):c.*581G>A	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 343119	NM_032638.5(GATA2):c.*570C>T	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 343120	NM_032638.5(GATA2):c.*546C>T	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome +1 more	GBenign
Select item 343121	NM_032638.5(GATA2):c.*508G>A	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GBenign
Select item 343122	NM_032638.5(GATA2):c.*479CTC[1]	GATA2	Microsatellite (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 343123	NM_032638.5(GATA2):c.*482C>T	GATA2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 900919	NM_032638.5(GATA2):c.*457G>A	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 343124	NM_032638.5(GATA2):c.*427C>T	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GBenign
Select item 343125	NM_032638.5(GATA2):c.*420G>A	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 900920	NM_032638.5(GATA2):c.*418G>A	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 343126	NM_032638.5(GATA2):c.*410C>T	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GBenign
Select item 900921	NM_032638.5(GATA2):c.*379C>T	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 900922	NM_032638.5(GATA2):c.*352C>T	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 343127	NM_032638.5(GATA2):c.*200C>T	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome +1 more	GBenign
Select item 1186578	NM_032638.5(GATA2):c.*199C>G	GATA2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 343128	NM_032638.5(GATA2):c.*190C>T	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 241712	NM_032638.5(GATA2):c.*183C>T	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome +2 more	GBenign/Likely benign
Select item 343129	NM_032638.5(GATA2):c.*174G>A	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 1223497	NM_032638.5(GATA2):c.*118C>T	GATA2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 343130	NM_032638.5(GATA2):c.*101G>A	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 2654110	NM_032638.5(GATA2):c.*100C>A	GATA2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 343131	NM_032638.5(GATA2):c.*94C>T	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GBenign
Select item 343132	NM_032638.5(GATA2):c.*84A>G	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 343133	NM_032638.5(GATA2):c.*73C>T	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 343134	NM_032638.5(GATA2):c.*32C>T	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 343135	NM_032638.5(GATA2):c.*24G>A	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GBenign
Select item 903433	NM_032638.5(GATA2):c.*13C>T	GATA2	Single nucleotide variant (3 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 2948333	NM_032638.5(GATA2):c.1442A>G (p.Ter481Trp)	GATA2	Single nucleotide variant (stop lost)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 999744	NM_032638.5(GATA2):c.1436T>C (p.Met479Thr)	GATA2 (M465T +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 754132	NM_032638.5(GATA2):c.1434C>T (p.Ala478=)	GATA2	Single nucleotide variant (synonymous variant)	Monocytopenia with susceptibility to infections +1 more	GLikely benign
Select item 952553	NM_032638.5(GATA2):c.1433C>T (p.Ala478Val)	GATA2 (A478V +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 3365504	NM_032638.5(GATA2):c.1432G>A (p.Ala478Thr)	GATA2 (A464T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 412746	NM_032638.5(GATA2):c.1431C>T (p.Thr477=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +3 more	GBenign/Likely benign
Select item 1035475	NM_032638.5(GATA2):c.1430C>T (p.Thr477Ile)	GATA2 (T477I +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 1314990	NM_032638.5(GATA2):c.1429A>G (p.Thr477Ala)	GATA2 (T463A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 472447	NM_032638.5(GATA2):c.1428G>A (p.Val476=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +1 more	GLikely benign
Select item 933816	NM_032638.5(GATA2):c.1427T>C (p.Val476Ala)	GATA2 (V462A +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 2941922	NM_032638.5(GATA2):c.1426G>A (p.Val476Met)	GATA2 (V476M +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 1485865	NM_032638.5(GATA2):c.1423A>G (p.Met475Val)	GATA2 (M475V +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 651053	NM_032638.5(GATA2):c.1423A>T (p.Met475Leu)	GATA2 (M461L +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +2 more	GUncertain significance
Select item 1958439	NM_032638.5(GATA2):c.1421G>C (p.Ser474Thr)	GATA2 (S460T +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 2071695	NM_032638.5(GATA2):c.1417T>C (p.Ser473Pro)	GATA2 (S473P +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 2925093	NM_032638.5(GATA2):c.1416G>T (p.Pro472=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +1 more	GLikely benign
Select item 412762	NM_032638.5(GATA2):c.1416G>A (p.Pro472=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1504722	NM_032638.5(GATA2):c.1415C>A (p.Pro472Gln)	GATA2 (P458Q +1 more)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 664366	NM_032638.5(GATA2):c.1415C>T (p.Pro472Leu)	GATA2 (P458L +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 3367264	NM_032638.5(GATA2):c.1414C>T (p.Pro472Ser)	GATA2 (P458S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1634585	NM_032638.5(GATA2):c.1413C>T (p.His471=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +1 more	GLikely benign
Select item 2183238	NM_032638.5(GATA2):c.1410_1411delinsAA (p.His471Asn)	GATA2 (H471N +1 more)	Indel (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 938799	NM_032638.5(GATA2):c.1411C>T (p.His471Tyr)	GATA2 (H457Y +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 241719	NM_032638.5(GATA2):c.1410C>T (p.Pro470=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +1 more	GLikely benign
Select item 2923990	NM_032638.5(GATA2):c.1409C>T (p.Pro470Leu)	GATA2 (P456L +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 1044942	NM_032638.5(GATA2):c.1409C>G (p.Pro470Arg)	GATA2 (P456R +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 1152595	NM_032638.5(GATA2):c.1407C>T (p.His469=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +1 more	GLikely benign
Select item 435280	NM_032638.5(GATA2):c.1407C>A (p.His469Gln)	GATA2 (H469Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1030046	NM_032638.5(GATA2):c.1405C>T (p.His469Tyr)	GATA2 (H455Y +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 1590855	NM_032638.5(GATA2):c.1404C>T (p.Gly468=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +1 more	GLikely benign
Select item 1401915	NM_032638.5(GATA2):c.1403G>A (p.Gly468Asp)	GATA2 (G468D +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 3098750	NM_032638.5(GATA2):c.1402G>T (p.Gly468Cys)	GATA2 (G454C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 574264	NM_032638.5(GATA2):c.1402G>A (p.Gly468Ser)	GATA2 (G468S +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +3 more	GUncertain significance
Select item 1003459	NM_032638.5(GATA2):c.1399_1401del (p.Phe467del)	GATA2 (F453del +1 more)	Deletion (inframe_deletion)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 698663	NM_032638.5(GATA2):c.1401C>T (p.Phe467=)	GATA2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2936309	NM_032638.5(GATA2):c.1398C>T (p.Ser466=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +1 more	GLikely benign
Select item 1436785	NM_032638.5(GATA2):c.1396_1397del (p.Ser466fs)	GATA2 (S452fs +1 more)	Microsatellite (frameshift variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 2946172	NM_032638.5(GATA2):c.1394T>C (p.Leu465Pro)	GATA2 (L451P +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 2926973	NM_032638.5(GATA2):c.1393C>T (p.Leu465Phe)	GATA2 (L465F +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 404069	NM_032638.5(GATA2):c.1391G>T (p.Ser464Ile)	GATA2 (S464I +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 412761	NM_032638.5(GATA2):c.1386C>T (p.Ser462=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +1 more	GLikely benign
Select item 580830	NM_032638.5(GATA2):c.1385C>A (p.Ser462Tyr)	GATA2 (S462Y +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1593042	NM_032638.5(GATA2):c.1383C>T (p.Pro461=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +1 more	GLikely benign
Select item 1350728	NM_032638.5(GATA2):c.1381C>T (p.Pro461Ser)	GATA2 (P447S +1 more)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +1 more	GUncertain significance
Select item 472446	NM_032638.5(GATA2):c.1380C>T (p.His460=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +1 more	GLikely benign
Select item 942923	NM_032638.5(GATA2):c.1376T>C (p.Ile459Thr)	GATA2 (I445T +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 861316	NM_032638.5(GATA2):c.1376T>A (p.Ile459Asn)	GATA2 (I445N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1153087	NM_032638.5(GATA2):c.1374C>T (p.Pro458=)	GATA2	Single nucleotide variant (synonymous variant)	Deafness-lymphedema-leukemia syndrome +1 more	GLikely benign
Select item 1506852	NM_032638.5(GATA2):c.1373C>T (p.Pro458Leu)	GATA2 (P458L +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +2 more	GUncertain significance
Select item 472445	NM_032638.5(GATA2):c.1372C>T (p.Pro458Ser)	GATA2 (P458S +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance

<< First< Prev

Page of 16