4838[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC126860963, LOC126860964 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	ADAMTS14, ADK +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	ADAMTS14, ADK +580 more	Copy number gain	See cases	GPathogenic
Select item 57436	GRCh38/hg38 10q22.1(chr10:70036168-70522664)x3	AIFM2, EIF4EBP2 +37 more	Copy number gain	See cases	GUncertain significance
Select item 300284	NM_018055.5(NODAL):c.*887C>T	NODAL	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 300285	NM_018055.5(NODAL):c.*886G>A	NODAL	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 5, autosomal +1 more	GBenign
Select item 300286	NM_018055.5(NODAL):c.*836G>C	NODAL	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 879350	NM_018055.5(NODAL):c.*829T>G	NODAL	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 5, autosomal +1 more	GUncertain significance
Select item 879351	NM_018055.5(NODAL):c.*820G>C	NODAL	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 5, autosomal +1 more	GUncertain significance
Select item 300287	NM_018055.5(NODAL):c.*747dup	NODAL	Duplication (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 300288	NM_018055.5(NODAL):c.*740T>C	NODAL	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GBenign
Select item 879713	NM_018055.5(NODAL):c.*729A>G	NODAL	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 5, autosomal +1 more	GUncertain significance
Select item 300289	NM_018055.5(NODAL):c.*722G>C	NODAL	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GBenign
Select item 300290	NM_018055.5(NODAL):c.*678G>A	NODAL	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 300291	NM_018055.5(NODAL):c.*677C>T	NODAL	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GLikely benign
Select item 300292	NM_018055.5(NODAL):c.*676C>T	NODAL	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 300293	NM_018055.5(NODAL):c.*480G>A	NODAL	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 300294	NM_018055.5(NODAL):c.*479C>T	NODAL	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GBenign
Select item 300295	NM_018055.5(NODAL):c.*404T>C	NODAL	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GBenign
Select item 878801	NM_018055.5(NODAL):c.*360A>G	NODAL	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 5, autosomal +1 more	GUncertain significance
Select item 300296	NM_018055.5(NODAL):c.*356G>A	NODAL	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GBenign
Select item 878802	NM_018055.5(NODAL):c.*329A>C	NODAL	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 879386	NM_018055.5(NODAL):c.*328G>A	NODAL	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 879387	NM_018055.5(NODAL):c.*125A>C	NODAL	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 5, autosomal +1 more	GUncertain significance
Select item 300297	NM_018055.5(NODAL):c.*121C>A	NODAL	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 5, autosomal +1 more	GUncertain significance
Select item 300298	NM_018055.5(NODAL):c.*62A>T	NODAL	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 2704535	NM_018055.5(NODAL):c.1039C>T (p.Leu347Phe)	NODAL (L347F +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal	GUncertain significance
Select item 1803561	NM_018055.5(NODAL):c.1033G>A (p.Gly345Arg)	NODAL (G212R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444004	NM_018055.5(NODAL):c.1021G>T (p.Val341Leu)	NODAL (V208L +1 more)	Single nucleotide variant (missense variant)	congenital heart defects	GUncertain significance
Select item 1285107	NM_018055.5(NODAL):c.1021G>A (p.Val341Met)	NODAL (V208M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 698710	NM_018055.5(NODAL):c.1020C>T (p.Ile340=)	NODAL	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 5, autosomal	GLikely benign
Select item 2057797	NM_018055.5(NODAL):c.1012G>C (p.Asp338His)	NODAL (D205H +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal	GUncertain significance
Select item 1297645	NM_018055.5(NODAL):c.986G>A (p.Gly329Asp)	NODAL (G196D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 697481	NM_018055.5(NODAL):c.972G>A (p.Leu324=)	NODAL	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence +1 more	GConflicting classifications of pathogenicity
Select item 300299	NM_018055.5(NODAL):c.963G>A (p.Leu321=)	NODAL	Single nucleotide variant (synonymous variant)	NODAL-related condition +2 more	GLikely benign
Select item 1468471	NM_018055.5(NODAL):c.959C>T (p.Pro320Leu)	NODAL (P320L +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal	GUncertain significance
Select item 699343	NM_018055.5(NODAL):c.945A>G (p.Pro315=)	NODAL	Single nucleotide variant (synonymous variant)	NODAL-related condition +1 more	GLikely benign
Select item 1028081	NM_018055.5(NODAL):c.926C>T (p.Pro309Leu)	NODAL (P176L +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal	GUncertain significance
Select item 697197	NM_018055.5(NODAL):c.924C>T (p.Val308=)	NODAL	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 5, autosomal	GLikely benign
Select item 697001	NM_018055.5(NODAL):c.916C>T (p.His306Tyr)	NODAL (H306Y +1 more)	Single nucleotide variant (missense variant)	NODAL-related condition +1 more	GLikely benign
Select item 1714478	NM_018055.5(NODAL):c.914C>T (p.Pro305Leu)	NODAL (P172L +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal	GUncertain significance
Select item 95883	NM_018055.5(NODAL):c.904C>T (p.Arg302Cys)	NODAL (R302C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2446683	NM_018055.5(NODAL):c.895C>A (p.Leu299Met)	NODAL (L166M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303062	NM_018055.5(NODAL):c.892-1G>C	NODAL	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1229166	NM_018055.5(NODAL):c.892-265A>T	NODAL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201238	NM_018055.5(NODAL):c.892-265del	NODAL	Deletion (intron variant)	not provided	GLikely benign
Select item 2058579	NM_018055.5(NODAL):c.891+19G>C	NODAL	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 5, autosomal	GLikely benign
Select item 571254	NM_018055.5(NODAL):c.891+2T>A	NODAL	Single nucleotide variant (splice donor variant)	Heterotaxy, visceral, 5, autosomal	GLikely pathogenic
Select item 241245	NM_018055.5(NODAL):c.891+1G>A	NODAL	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1942342	NM_018055.5(NODAL):c.870G>A (p.Pro290=)	NODAL	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 5, autosomal	GLikely benign
Select item 473048	NM_018055.5(NODAL):c.870G>T (p.Pro290=)	NODAL	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 5, autosomal	GLikely benign
Select item 1423390	NM_018055.5(NODAL):c.869C>T (p.Pro290Leu)	NODAL (P157L +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal	GUncertain significance
Select item 2173306	NM_018055.5(NODAL):c.835G>A (p.Glu279Lys)	NODAL (E279K +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal +1 more	GConflicting classifications of pathogenicity
Select item 423103	NM_018055.5(NODAL):c.824G>A (p.Arg275His)	NODAL (R275H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 978646	NM_018055.5(NODAL):c.823C>T (p.Arg275Cys)	NODAL (R142C +1 more)	Single nucleotide variant (missense variant)	Heart, malformation of	GPathogenic
Select item 877821	NM_018055.5(NODAL):c.819C>G (p.Ala273=)	NODAL	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 5, autosomal +1 more	GConflicting classifications of pathogenicity
Select item 1013953	NM_018055.5(NODAL):c.817G>A (p.Ala273Thr)	NODAL (A140T +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal	GUncertain significance
Select item 1165439	NM_018055.5(NODAL):c.816C>T (p.Asn272=)	NODAL	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 5, autosomal	GBenign
Select item 1315316	NM_018055.5(NODAL):c.778G>C (p.Gly260Arg)	NODAL (G127R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 8269	NM_018055.5(NODAL):c.778G>A (p.Gly260Arg)	NODAL (G260R +1 more)	Single nucleotide variant (missense variant)	Visceral heterotaxy +4 more	GConflicting classifications of pathogenicity
Select item 473047	NM_018055.5(NODAL):c.759G>A (p.Gln253=)	NODAL	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 5, autosomal	GLikely benign
Select item 418388	NM_018055.5(NODAL):c.742C>T (p.Arg248Trp)	NODAL (R248W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678001	NM_018055.5(NODAL):c.700_723delinsTTGACTTCC (p.Arg234_Pro241delinsLeuThrSer)	NODAL	Indel (inframe_indel)	NODAL-related condition +1 more	GUncertain significance
Select item 545543	NM_018055.5(NODAL):c.700_707del (p.Arg234fs)	NODAL (R101fs +1 more)	Deletion (frameshift variant)	Heterotaxy, visceral, 5, autosomal	GLikely pathogenic
Select item 877822	NM_018055.5(NODAL):c.702G>A (p.Arg234=)	NODAL	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 5, autosomal +1 more	GUncertain significance
Select item 660583	NM_018055.5(NODAL):c.679C>G (p.Leu227Val)	NODAL (L94V +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal	GUncertain significance
Select item 567292	NM_018055.5(NODAL):c.673G>A (p.Gly225Arg)	NODAL (G225R +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal	GUncertain significance
Select item 699171	NM_018055.5(NODAL):c.672G>A (p.Glu224=)	NODAL	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 5, autosomal	GLikely benign
Select item 877823	NM_018055.5(NODAL):c.670G>A (p.Glu224Lys)	NODAL (E224K +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal +1 more	GUncertain significance
Select item 215899	NM_018055.5(NODAL):c.662G>A (p.Arg221Gln)	NODAL (R221Q +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal	GLikely benign
Select item 841318	NM_018055.5(NODAL):c.661C>T (p.Arg221Trp)	NODAL (R88W +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal +1 more	GUncertain significance
Select item 703272	NM_018055.5(NODAL):c.661C>A (p.Arg221=)	NODAL	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 5, autosomal	GLikely benign
Select item 407446	NM_018055.5(NODAL):c.658T>C (p.Trp220Arg)	NODAL (W220R +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal +1 more	GUncertain significance
Select item 260992	NM_018055.5(NODAL):c.607G>A (p.Glu203Lys)	NODAL (E203K +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal +2 more	GBenign/Likely benign
Select item 2262635	NM_018055.5(NODAL):c.602C>T (p.Ser201Leu)	NODAL (S201L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 300300	NM_018055.5(NODAL):c.593C>A (p.Ser198Tyr)	NODAL (S198Y +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal +2 more	GUncertain significance
Select item 986360	NM_018055.5(NODAL):c.591C>A (p.Tyr197Ter)	NODAL (Y197* +1 more)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 5, autosomal	GPathogenic
Select item 260991	NM_018055.5(NODAL):c.588C>G (p.Leu196=)	NODAL	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 5, autosomal +3 more	GBenign
Select item 1285182	NM_018055.5(NODAL):c.586C>T (p.Leu196Phe)	NODAL (L196F +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal	GUncertain significance
Select item 790991	NM_018055.5(NODAL):c.561G>A (p.Pro187=)	NODAL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 690399	NM_018055.5(NODAL):c.555dup (p.Thr186fs)	NODAL (T186fs +1 more)	Duplication (frameshift variant)	Congenitally corrected transposition of the great arteries	GUncertain significance
Select item 1069992	NM_018055.5(NODAL):c.555del (p.Thr186fs)	NODAL (T186fs +1 more)	Deletion (frameshift variant)	Heterotaxy, visceral, 5, autosomal	GPathogenic
Select item 877985	NM_018055.5(NODAL):c.555C>A (p.Pro185=)	NODAL	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 5, autosomal +1 more	GUncertain significance
Select item 300301	NM_018055.5(NODAL):c.550C>T (p.Pro184Ser)	NODAL (P184S +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence +2 more	GUncertain significance
Select item 8268	NM_018055.5(NODAL):c.548G>A (p.Arg183Gln)	NODAL (R183Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2290033	NM_018055.5(NODAL):c.547C>T (p.Arg183Trp)	NODAL (R183W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1135302	NM_018055.5(NODAL):c.545C>T (p.Pro182Leu)	NODAL (P182L +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal	GLikely benign
Select item 260990	NM_018055.5(NODAL):c.531T>C (p.Ala177=)	NODAL	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 5, autosomal +1 more	GLikely benign
Select item 697646	NM_018055.5(NODAL):c.518T>C (p.Met173Thr)	NODAL (M173T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 300302	NM_018055.5(NODAL):c.514C>G (p.Gln172Glu)	NODAL (Q172E +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 879450	NM_018055.5(NODAL):c.512A>T (p.Lys171Met)	NODAL (K171M +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal +1 more	GUncertain significance
Select item 3061054	NM_018055.5(NODAL):c.502G>T (p.Ala168Ser)	NODAL (A168S +1 more)	Single nucleotide variant (missense variant)	NODAL-related condition	GUncertain significance
Select item 95882	NM_018055.5(NODAL):c.494A>G (p.His165Arg)	NODAL (H165R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 2957448	NM_018055.5(NODAL):c.474T>A (p.Pro158=)	NODAL	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 5, autosomal	GLikely benign
Select item 704507	NM_018055.5(NODAL):c.473C>T (p.Pro158Leu)	NODAL (P25L +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal	GLikely benign
Select item 879451	NM_018055.5(NODAL):c.467C>T (p.Thr156Ile)	NODAL (T23I +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal +1 more	GUncertain significance
Select item 663619	NM_018055.5(NODAL):c.446del (p.Gly149fs)	NODAL (G149fs +1 more)	Deletion (frameshift variant)	Heterotaxy, visceral, 5, autosomal	GPathogenic
Select item 1480606	NM_018055.5(NODAL):c.419C>T (p.Thr140Ile)	NODAL (T140I +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal	GUncertain significance

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