ClinVar for MedGen (Select 501198) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 108

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2984711	NM_018055.5(NODAL):c.406C>T (p.Leu136=)	NODAL	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 5, autosomal	GLikely benign
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 2876156	NM_018055.5(NODAL):c.152C>T (p.Pro51Leu)	NODAL (P51L)	Single nucleotide variant (missense variant +1 more)	Heterotaxy, visceral, 5, autosomal	GLikely benign
Select item 2754630	NM_018055.5(NODAL):c.272C>A (p.Ala91Asp)	NODAL (A91D)	Single nucleotide variant (5 prime UTR variant +1 more)	Heterotaxy, visceral, 5, autosomal	GUncertain significance
Select item 2737539	NM_018055.5(NODAL):c.361A>T (p.Thr121Ser)	NODAL (T121S)	Single nucleotide variant (5 prime UTR variant +1 more)	Heterotaxy, visceral, 5, autosomal	GUncertain significance
Select item 2715228	NM_018055.5(NODAL):c.193+4G>A	NODAL	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 5, autosomal	GUncertain significance
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 2442204	NM_018055.5(NODAL):c.2T>C (p.Met1Thr)	NODAL (M1T)	Single nucleotide variant (missense variant +2 more)	Heterotaxy, visceral, 5, autosomal	GConflicting classifications of pathogenicity
Select item 2434385	NM_018055.5(NODAL):c.404A>G (p.Asp135Gly)	NODAL (D135G +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal	GUncertain significance
Select item 2192363	NM_018055.5(NODAL):c.93G>A (p.Thr31=)	NODAL	Single nucleotide variant (synonymous variant +1 more)	Heterotaxy, visceral, 5, autosomal	GLikely benign
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 2083820	NM_018055.5(NODAL):c.130A>C (p.Met44Leu)	NODAL (M44L)	Single nucleotide variant (missense variant +1 more)	Heterotaxy, visceral, 5, autosomal	GUncertain significance
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 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 1942342	NM_018055.5(NODAL):c.870G>A (p.Pro290=)	NODAL	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 5, autosomal	GLikely benign
Select item 1942287	NM_018055.5(NODAL):c.68C>T (p.Thr23Met)	NODAL (T23M)	Single nucleotide variant (missense variant +1 more)	Heterotaxy, visceral, 5, autosomal	GUncertain significance
Select item 1929444	NM_018055.5(NODAL):c.222G>A (p.Thr74=)	NODAL	Single nucleotide variant (5 prime UTR variant +1 more)	NODAL-related condition +1 more	GLikely benign
Select item 1900174	NM_018055.5(NODAL):c.291G>T (p.Leu97=)	NODAL	Single nucleotide variant (5 prime UTR variant +1 more)	Heterotaxy, visceral, 5, autosomal	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 1678001	NM_018055.5(NODAL):c.700_723delinsTTGACTTCC (p.Arg234_Pro241delinsLeuThrSer)	NODAL	Indel (inframe_indel)	NODAL-related condition +1 more	GUncertain significance
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
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 1460012	NC_000010.10:g.(?_72183370)_(72201347_?)del	EIF4EBP2, NODAL	Deletion	Heterotaxy, visceral, 5, autosomal	GPathogenic
Select item 1434807	NM_018055.5(NODAL):c.211C>A (p.Gln71Lys)	NODAL (Q71K)	Single nucleotide variant (5 prime UTR variant +1 more)	Heterotaxy, visceral, 5, autosomal	GUncertain significance
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 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 1165439	NM_018055.5(NODAL):c.816C>T (p.Asn272=)	NODAL	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 5, autosomal	GBenign
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 1069992	NM_018055.5(NODAL):c.555del (p.Thr186fs)	NODAL (T186fs +1 more)	Deletion (frameshift variant)	Heterotaxy, visceral, 5, autosomal	GPathogenic
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 1022610	NC_000010.10:g.(?_72179670)_(72360658_?)dup	EIF4EBP2, NODAL +2 more	Duplication	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GUncertain significance
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 1010676	NM_018055.5(NODAL):c.53A>G (p.Gln18Arg)	NODAL (Q18R)	Single nucleotide variant (missense variant +1 more)	Heterotaxy, visceral, 5, autosomal	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 947083	NM_018055.5(NODAL):c.107C>G (p.Ser36Trp)	NODAL (S36W)	Single nucleotide variant (missense variant +1 more)	Heterotaxy, visceral, 5, autosomal	GUncertain significance
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 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 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 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 879386	NM_018055.5(NODAL):c.*328G>A	NODAL	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence +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 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 878802	NM_018055.5(NODAL):c.*329A>C	NODAL	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GUncertain significance
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 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 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 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 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 859662	NM_018055.5(NODAL):c.347A>T (p.Gln116Leu)	NODAL (Q116L)	Single nucleotide variant (5 prime UTR variant +1 more)	Heterotaxy, visceral, 5, autosomal	GUncertain significance
Select item 849234	NM_018055.5(NODAL):c.355C>T (p.Pro119Ser)	NODAL (P119S)	Single nucleotide variant (5 prime UTR variant +1 more)	Heterotaxy, visceral, 5, autosomal	GUncertain significance
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 835273	NM_018055.5(NODAL):c.254A>G (p.Gln85Arg)	NODAL (Q85R)	Single nucleotide variant (5 prime UTR variant +1 more)	Heterotaxy, visceral, 5, autosomal	GUncertain significance
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 703272	NM_018055.5(NODAL):c.661C>A (p.Arg221=)	NODAL	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 5, autosomal	GLikely benign
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 698710	NM_018055.5(NODAL):c.1020C>T (p.Ile340=)	NODAL	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 5, autosomal	GLikely benign
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 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 663619	NM_018055.5(NODAL):c.446del (p.Gly149fs)	NODAL (G149fs +1 more)	Deletion (frameshift variant)	Heterotaxy, visceral, 5, autosomal	GPathogenic
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 571254	NM_018055.5(NODAL):c.891+2T>A	NODAL	Single nucleotide variant (splice donor variant)	Heterotaxy, visceral, 5, autosomal	GLikely pathogenic
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 545545	NM_018055.5(NODAL):c.397C>T (p.Gln133Ter)	NODAL (Q133*)	Single nucleotide variant (5 prime UTR variant +1 more)	Heterotaxy, visceral, 5, autosomal	GPathogenic
Select item 545544	NM_018055.5(NODAL):c.194-1G>T	NODAL	Single nucleotide variant (splice acceptor variant)	Heterotaxy, visceral, 5, autosomal	GLikely pathogenic
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 473049	NM_018055.5(NODAL):c.9C>T (p.Ala3=)	NODAL	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	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 473047	NM_018055.5(NODAL):c.759G>A (p.Gln253=)	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 300313	NM_018055.5(NODAL):c.-9C>T	NODAL	Single nucleotide variant (5 prime UTR variant +1 more)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 300312	NM_018055.5(NODAL):c.125C>T (p.Ala42Val)	NODAL (A42V)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly sequence +2 more	GUncertain significance
Select item 300311	NM_018055.5(NODAL):c.203T>C (p.Val68Ala)	NODAL (V68A)	Single nucleotide variant (5 prime UTR variant +1 more)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 300310	NM_018055.5(NODAL):c.216C>T (p.Asn72=)	NODAL	Single nucleotide variant (5 prime UTR variant +1 more)	Holoprosencephaly sequence +2 more	GBenign
Select item 300309	NM_018055.5(NODAL):c.221C>T (p.Thr74Met)	NODAL (T74M)	Single nucleotide variant (5 prime UTR variant +1 more)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 300308	NM_018055.5(NODAL):c.280C>T (p.Arg94Trp)	NODAL (R94W)	Single nucleotide variant (5 prime UTR variant +1 more)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 300307	NM_018055.5(NODAL):c.281G>A (p.Arg94Gln)	NODAL (R94Q)	Single nucleotide variant (5 prime UTR variant +1 more)	NODAL-related condition +2 more	GLikely benign
Select item 300305	NM_018055.5(NODAL):c.357C>T (p.Pro119=)	NODAL	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly sequence +1 more	GBenign
Select item 300304	NM_018055.5(NODAL):c.393G>C (p.Arg131=)	NODAL	Single nucleotide variant (5 prime UTR variant +1 more)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 300303	NM_018055.5(NODAL):c.417C>T (p.Val139=)	NODAL	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence +1 more	GLikely benign
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 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 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 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 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 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 300296	NM_018055.5(NODAL):c.*356G>A	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 300294	NM_018055.5(NODAL):c.*479C>T	NODAL	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence +1 more	GBenign
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 300292	NM_018055.5(NODAL):c.*676C>T	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 300290	NM_018055.5(NODAL):c.*678G>A	NODAL	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence +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 300288	NM_018055.5(NODAL):c.*740T>C	NODAL	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence +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 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 300284	NM_018055.5(NODAL):c.*887C>T	NODAL	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence +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 260991	NM_018055.5(NODAL):c.588C>G (p.Leu196=)	NODAL	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 5, autosomal +3 more	GBenign

<< First< Prev

Page of 2