"Illumina Laboratory Services, Illumina"[submitter] AND "NODAL"[gene] - ClinVar

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

Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 300300	NM_018055.5(NODAL):c.593C>A (p.Ser198Tyr)	NODAL (S198Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 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)	Inborn genetic diseases +2 more	GUncertain significance
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 95882	NM_018055.5(NODAL):c.494A>G (p.His165Arg)	NODAL (H165R +1 more)	Single nucleotide variant (missense variant)	NODAL-related condition +4 more	GBenign
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 300303	NM_018055.5(NODAL):c.417C>T (p.Val139=)	NODAL	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence +1 more	GLikely benign
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 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 300306	NM_018055.5(NODAL):c.296del (p.Ser99fs)	NODAL (S99fs)	Deletion (5 prime UTR variant +1 more)	NODAL-Related Disorders	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 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 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 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 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 95881	NM_018055.5(NODAL):c.193+12C>T	NODAL	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
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 300313	NM_018055.5(NODAL):c.-9C>T	NODAL	Single nucleotide variant (5 prime UTR variant +1 more)	Holoprosencephaly sequence +1 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 49