29250[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 702

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 150627	GRCh38/hg38 2p24.2-24.1(chr2:16723596-21600734)x1	APOB, APOB-ICR +131 more	Copy number loss	See cases	GPathogenic
Select item 154010	GRCh38/hg38 2p24.1(chr2:19667198-20009783)x3	LINC00954, LOC105373461 +8 more	Copy number gain	See cases	GLikely benign
Select item 897634	NM_001006657.1(WDR35):c.*3299C>T	WDR35	Single nucleotide variant	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333317	NM_020779.4(WDR35):c.*3269G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333318	NM_020779.4(WDR35):c.*3268C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 333319	NM_020779.4(WDR35):c.*3235C>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333320	NM_020779.4(WDR35):c.*3225G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333321	NM_020779.4(WDR35):c.*2990G>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333322	NM_020779.4(WDR35):c.*2989C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333323	NM_020779.4(WDR35):c.*2962C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333324	NM_020779.4(WDR35):c.*2957G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 333325	NM_020779.4(WDR35):c.*2887T>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333326	NM_020779.4(WDR35):c.*2836C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GBenign
Select item 333327	NM_020779.4(WDR35):c.*2797G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333328	NM_020779.4(WDR35):c.*2748G>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333329	NM_020779.4(WDR35):c.*2726A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333330	NM_020779.4(WDR35):c.*2725G>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 896113	NM_020779.4(WDR35):c.*2629T>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333331	NM_020779.4(WDR35):c.*2623T>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +2 more	GBenign
Select item 333332	NM_020779.4(WDR35):c.*2622A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 897709	NM_020779.4(WDR35):c.*2620G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333333	NM_020779.4(WDR35):c.*2619C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 898866	NM_020779.4(WDR35):c.*2618G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333334	NM_020779.4(WDR35):c.*2559A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333335	NM_020779.4(WDR35):c.*2463C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +2 more	GBenign
Select item 333336	NM_020779.4(WDR35):c.*2408G>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GBenign
Select item 333337	NM_020779.4(WDR35):c.*2341G>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 895898	NM_020779.4(WDR35):c.*2315G>C	WDR35	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 333338	NM_020779.4(WDR35):c.*2288C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short rib-polydactyly syndrome +1 more	GUncertain significance
Select item 895899	NM_020779.4(WDR35):c.*2239G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 895900	NM_020779.4(WDR35):c.*2228C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 896181	NM_020779.4(WDR35):c.*2160T>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333339	NM_020779.4(WDR35):c.*2029GTCT[1]	WDR35	Microsatellite (3 prime UTR variant)	Short rib-polydactyly syndrome +1 more	GUncertain significance
Select item 896182	NM_020779.4(WDR35):c.*1960G>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 896183	NM_020779.4(WDR35):c.*1957C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333340	NM_020779.4(WDR35):c.*1934A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 897784	NM_020779.4(WDR35):c.*1821A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 897785	NM_020779.4(WDR35):c.*1754C>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333341	NM_020779.4(WDR35):c.*1681A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 333342	NM_020779.4(WDR35):c.*1668A>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 898928	NM_020779.4(WDR35):c.*1637C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333343	NM_020779.4(WDR35):c.*1582C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333344	NM_020779.4(WDR35):c.1575_1576dup	WDR35	Duplication (3 prime UTR variant)	Short rib-polydactyly syndrome +1 more	GLikely benign
Select item 333345	NM_020779.4(WDR35):c.*1489G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GBenign
Select item 333346	NM_020779.4(WDR35):c.*1479C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GBenign
Select item 333347	NM_020779.4(WDR35):c.*1461A>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 894799	NM_020779.4(WDR35):c.*1413C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 894800	NM_020779.4(WDR35):c.*1406A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +2 more	GBenign
Select item 894801	NM_020779.4(WDR35):c.*1370G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333348	NM_020779.4(WDR35):c.*1270C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333349	NM_020779.4(WDR35):c.*1253C>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 896251	NM_020779.4(WDR35):c.*1219G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 896252	NM_020779.4(WDR35):c.*1218C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 897857	NM_020779.4(WDR35):c.*1207C>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 897858	NM_020779.4(WDR35):c.*1146T>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333350	NM_020779.4(WDR35):c.*1129C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 333351	NM_020779.4(WDR35):c.*1127A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +2 more	GBenign
Select item 333352	NM_020779.4(WDR35):c.*1062G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333353	NM_020779.4(WDR35):c.*1050T>C	WDR35	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 333354	NM_020779.4(WDR35):c.*1038C>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333355	NM_020779.4(WDR35):c.*1006G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 894872	NM_020779.4(WDR35):c.*1005C>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333356	NM_020779.4(WDR35):c.*998A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 894873	NM_020779.4(WDR35):c.*997T>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GUncertain significance
Select item 894874	NM_020779.4(WDR35):c.*978A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GBenign
Select item 333357	NM_020779.4(WDR35):c.*813A>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 896318	NM_020779.4(WDR35):c.*807T>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 333358	NM_020779.4(WDR35):c.*795C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333359	NM_020779.4(WDR35):c.*763T>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 897938	NM_020779.4(WDR35):c.*747C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 897939	NM_020779.4(WDR35):c.*712A>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 897940	NM_020779.4(WDR35):c.*635C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333360	NM_020779.4(WDR35):c.*601A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 333361	NM_020779.4(WDR35):c.*573A>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 333362	NM_020779.4(WDR35):c.*563T>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333363	NM_020779.4(WDR35):c.*553G>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GBenign
Select item 333364	NM_020779.4(WDR35):c.*531T>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 333365	NM_020779.4(WDR35):c.*523G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 894943	NM_020779.4(WDR35):c.*487C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GBenign
Select item 333366	NM_020779.4(WDR35):c.*380G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 894944	NM_020779.4(WDR35):c.*305T>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 896381	NM_020779.4(WDR35):c.*297A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 896382	NM_020779.4(WDR35):c.*271A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333367	NM_020779.4(WDR35):c.*231C>A	WDR35	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 333368	NM_020779.4(WDR35):c.*98T>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GBenign
Select item 898010	NM_020779.4(WDR35):c.*16T>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 1338942	NM_020779.4(WDR35):c.*6T>G	WDR35	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 437273	NM_020779.4(WDR35):c.3495C>A (p.Cys1165Ter)	WDR35 (C1176* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3189987	NM_020779.4(WDR35):c.3485G>T (p.Cys1162Phe)	WDR35 (C1173F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 288788	NM_020779.4(WDR35):c.3467T>G (p.Ile1156Arg)	WDR35 (I1167R +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +2 more	GConflicting classifications of pathogenicity
Select item 898011	NM_020779.4(WDR35):c.3464A>C (p.Glu1155Ala)	WDR35 (E1155A +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GUncertain significance

<< First< Prev

Page of 8