C1275808[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 164943	NM_003924.4(PHOX2B):c.870C>A (p.Pro290=)	PHOX2B	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 535774	NM_003924.4(PHOX2B):c.851C>G (p.Pro284Arg)	PHOX2B (P284R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 239596	NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser)	PHOX2B (G278S)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1172785	NM_003924.4(PHOX2B):c.829C>A (p.Pro277Thr)	PHOX2B (P277T)	Single nucleotide variant (missense variant)	Congenital central hypoventilation +2 more	GUncertain significance
Select item 467746	NM_003924.4(PHOX2B):c.785G>T (p.Gly262Val)	PHOX2B (G262V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 573076	NM_003924.4(PHOX2B):c.762AGCGGC[3] (p.Ala259_Ala260dup)	LOC110011216, PHOX2B	Microsatellite (inframe_insertion)	Congenital central hypoventilation	GUncertain significance
Select item 348809	NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu)	LOC110011216, PHOX2B (A258E)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 164944	NM_003924.4(PHOX2B):c.762A>C (p.Ala254=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 2 +5 more	GBenign/Likely benign
Select item 239594	NM_003924.4(PHOX2B):c.760G>A (p.Ala254Thr)	LOC110011216, PHOX2B (A254T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 239592	NM_003924.4(PHOX2B):c.750G>A (p.Ala250=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 2 +5 more	GBenign/Likely benign
Select item 901291	NM_003924.4(PHOX2B):c.741C>G (p.Ala247=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 348810	NM_003924.4(PHOX2B):c.729A>G (p.Ala243=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome +3 more	GConflicting classifications of pathogenicity
Select item 227845	NM_003924.4(PHOX2B):c.726A>G (p.Ala242=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Congenital central hypoventilation +5 more	GBenign/Likely benign
Select item 239588	NM_003924.4(PHOX2B):c.639C>G (p.Gly213=)	PHOX2B	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 227015	NM_003924.4(PHOX2B):c.552C>T (p.Ser184=)	PHOX2B	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 486031	NM_003924.4(PHOX2B):c.486C>T (p.Ala162=)	PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 227014	NM_003924.4(PHOX2B):c.450C>G (p.Arg150=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome +6 more	GBenign/Likely benign
Select item 766452	NM_003924.4(PHOX2B):c.429+7G>T	PHOX2B	Single nucleotide variant (intron variant)	Congenital central hypoventilation	GLikely benign
Select item 869127	NM_003924.4(PHOX2B):c.422G>A (p.Arg141Gln)	PHOX2B (R141Q)	Single nucleotide variant (missense variant)	Haddad syndrome +1 more	GPathogenic
Select item 239587	NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 486030	NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr)	PHOX2B, PHOX2B-AS1 (S76T)	Single nucleotide variant (missense variant)	Haddad syndrome +4 more	GConflicting classifications of pathogenicity
Select item 997541	NM_003924.4(PHOX2B):c.157G>T (p.Ala53Ser)	PHOX2B-AS1, PHOX2B (A53S)	Single nucleotide variant (missense variant)	Congenital central hypoventilation +1 more	GUncertain significance
Select item 13947	NM_020975.6(RET):c.341G>A (p.Arg114His)	RET (R114H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GBenign/Likely benign
Select item 573409	NM_020975.6(RET):c.433G>A (p.Val145Ile)	RET (V145I)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +8 more	GConflicting classifications of pathogenicity
Select item 220574	NM_020975.6(RET):c.1124T>A (p.Leu375Gln)	RET (L375Q +6 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 405529	NM_020975.6(RET):c.1151C>G (p.Pro384Arg)	RET (P384R +6 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2B +8 more	GUncertain significance
Select item 405534	NM_020975.6(RET):c.1448A>G (p.Tyr483Cys)	RET (Y483C +8 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2B +7 more	GUncertain significance
Select item 13905	NM_020975.6(RET):c.1852T>G (p.Cys618Gly)	RET (C618G +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GPathogenic
Select item 24929	NM_020975.6(RET):c.1947G>A (p.Ser649=)	RET	Single nucleotide variant (synonymous variant +1 more)	Familial medullary thyroid carcinoma +8 more	GPathogenic/Likely pathogenic
Select item 187701	NM_020975.6(RET):c.2225C>T (p.Thr742Met)	RET (T742M +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2B +8 more	GConflicting classifications of pathogenicity
Select item 24939	NM_020975.6(RET):c.2371T>A (p.Tyr791Asn)	RET (Y537N +16 more)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 37102	NM_020975.6(RET):c.2410G>A (p.Val804Met)	RET (V804M +17 more)	Single nucleotide variant (missense variant)	Familial medullary thyroid carcinoma +12 more	GPathogenic/Likely pathogenic
Select item 194426	NM_020975.6(RET):c.2454G>A (p.Glu818=)	RET	Single nucleotide variant (synonymous variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 405527	NM_020975.6(RET):c.2527G>A (p.Glu843Lys)	RET (E843K +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2B +8 more	GConflicting classifications of pathogenicity
Select item 41842	NM_020975.6(RET):c.2611G>A (p.Val871Ile)	RET (V871I +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2B +9 more	GConflicting classifications of pathogenicity
Select item 477359	NM_020975.6(RET):c.2945G>A (p.Arg982His)	RET (R982H +17 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 17696	NM_001709.5(BDNF):c.5C>T (p.Thr2Ile)	BDNF, BDNF-AS (T2I +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 227351	NM_207034.3(EDN3):c.565dup (p.Thr189fs)	EDN3 (T189fs)	Duplication	Waardenburg syndrome type 4B +3 more	GBenign/Likely benign

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Items: 38