ClinVar for MedGen (Select 220902) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333573	NM_003924.4(PHOX2B):c.691_698del (p.Gly231fs)	PHOX2B (G231fs)	Microsatellite (frameshift variant)	Congenital central hypoventilation	GLikely pathogenic
Select item 1320316	NM_003924.4(PHOX2B):c.440A>G (p.Gln147Arg)	PHOX2B (Q147R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1172785	NM_003924.4(PHOX2B):c.829C>A (p.Pro277Thr)	PHOX2B (P277T)	Single nucleotide variant (missense variant)	Haddad syndrome +2 more	GUncertain significance
Select item 1029784	NM_003924.4(PHOX2B):c.292C>T (p.Gln98Ter)	PHOX2B (Q98*)	Single nucleotide variant (nonsense)	Congenital central hypoventilation +1 more	GPathogenic
Select item 997541	NM_003924.4(PHOX2B):c.157G>T (p.Ala53Ser)	PHOX2B, PHOX2B-AS1 (A53S)	Single nucleotide variant (missense variant)	Haddad syndrome +1 more	GUncertain significance
Select item 995904	NM_003924.4(PHOX2B):c.234_240del (p.Pro77_Tyr78insTer)	PHOX2B, PHOX2B-AS1	Deletion (nonsense)	Congenital central hypoventilation	GPathogenic
Select item 984923	NM_003924.4(PHOX2B):c.738_776dup (p.Ala248_Ala260dup)	LOC110011216, PHOX2B	Duplication (inframe_insertion)	Congenital central hypoventilation +1 more	GPathogenic
Select item 931814	NM_003924.4(PHOX2B):c.682G>A (p.Gly228Arg)	PHOX2B (G228R)	Single nucleotide variant (missense variant)	Congenital central hypoventilation	GUncertain significance
Select item 903659	NM_003924.4(PHOX2B):c.*789G>A	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 903594	NM_003924.4(PHOX2B):c.*1582T>C	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 902755	NM_003924.3(PHOX2B):c.-159C>T	PHOX2B, PHOX2B-AS1	Single nucleotide variant	Congenital central hypoventilation +1 more	GUncertain significance
Select item 902754	NM_003924.4(PHOX2B):c.-105G>A	PHOX2B, PHOX2B-AS1	Single nucleotide variant (5 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 901843	NM_003924.4(PHOX2B):c.235G>A (p.Ala79Thr)	PHOX2B, PHOX2B-AS1 (A79T)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 901710	NM_003924.4(PHOX2B):c.*838A>G	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GBenign
Select item 901291	NM_003924.4(PHOX2B):c.741C>G (p.Ala247=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 901224	NM_003924.4(PHOX2B):c.*161G>C	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 901223	NM_003924.4(PHOX2B):c.*214A>G	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 901222	NM_003924.4(PHOX2B):c.*278T>A	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GBenign
Select item 901162	NM_003924.4(PHOX2B):c.*1334G>C	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 901161	NM_003924.4(PHOX2B):c.*1345G>T	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GUncertain significance
Select item 900067	NM_003924.4(PHOX2B):c.*301C>G	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GUncertain significance
Select item 900066	NM_003924.4(PHOX2B):c.*680C>G	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GUncertain significance
Select item 869129	NM_003924.4(PHOX2B):c.234C>G (p.Tyr78Ter)	PHOX2B, PHOX2B-AS1 (Y78*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 869128	NM_003924.4(PHOX2B):c.446G>T (p.Arg149Leu)	PHOX2B (R149L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 802070	NM_003924.4(PHOX2B):c.741_755dup (p.Ala256_Ala260dup)	LOC110011216, PHOX2B	Duplication (inframe_insertion)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 766452	NM_003924.4(PHOX2B):c.429+7G>T	PHOX2B	Single nucleotide variant (intron variant)	Congenital central hypoventilation	GLikely benign
Select item 618965	NM_020975.4(RET):c.[2410G>A;2832C>G]	RET (V804M +35 more)	Single nucleotide variant (missense variant)	Medullary thyroid carcinoma	GPathogenic
Select item 573409	NM_020975.6(RET):c.433G>A (p.Val145Ile)	RET (V145I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
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 561080	NM_003924.4(PHOX2B):c.385G>A (p.Glu129Lys)	PHOX2B (E129K)	Single nucleotide variant (missense variant)	Congenital central hypoventilation	GConflicting classifications of pathogenicity
Select item 535774	NM_003924.4(PHOX2B):c.851C>G (p.Pro284Arg)	PHOX2B (P284R)	Single nucleotide variant (missense variant)	Congenital central hypoventilation +3 more	GUncertain significance
Select item 506167	NM_003924.4(PHOX2B):c.729_749dup (p.Ala254_Ala260dup)	PHOX2B, LOC110011216	Duplication (inframe_insertion)	Congenital central hypoventilation	GPathogenic
Select item 505021	NM_003924.4(PHOX2B):c.753_767dup (p.Ala256_Ala260dup)	LOC110011216, PHOX2B	Duplication (inframe_insertion)	not provided +3 more	GPathogenic
Select item 486031	NM_003924.4(PHOX2B):c.486C>T (p.Ala162=)	PHOX2B	Single nucleotide variant (synonymous variant)	Congenital central hypoventilation +3 more	GBenign/Likely benign
Select item 486030	NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr)	PHOX2B-AS1, PHOX2B (S76T)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 2 +5 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)	Congenital central hypoventilation +8 more	GConflicting classifications of pathogenicity
Select item 467746	NM_003924.4(PHOX2B):c.785G>T (p.Gly262Val)	PHOX2B (G262V)	Single nucleotide variant (missense variant)	Congenital central hypoventilation +2 more	GUncertain significance
Select item 452239	NM_003924.4(PHOX2B):c.756_776dup (p.Ala254_Ala260dup)	LOC110011216, PHOX2B	Duplication (inframe_insertion)	not provided +3 more	GPathogenic
Select item 429242	NM_003924.4(PHOX2B):c.765_779dup (p.Ala256_Ala260dup)	PHOX2B	Duplication (inframe_insertion)	not provided +3 more	GPathogenic
Select item 405534	NM_020975.6(RET):c.1448A>G (p.Tyr483Cys)	RET (Y483C +8 more)	Single nucleotide variant (missense variant)	Familial medullary thyroid carcinoma +7 more	GUncertain significance
Select item 405529	NM_020975.6(RET):c.1151C>G (p.Pro384Arg)	RET (P384R +6 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GUncertain significance
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 2 +9 more	GConflicting classifications of pathogenicity
Select item 348813	NM_003924.3(PHOX2B):c.-265G>A	PHOX2B, PHOX2B-AS1	Single nucleotide variant	Congenital central hypoventilation +1 more	GUncertain significance
Select item 348812	NM_003924.3(PHOX2B):c.-210C>A	PHOX2B, PHOX2B-AS1	Single nucleotide variant	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 348811	NM_003924.3(PHOX2B):c.-195G>A	PHOX2B, PHOX2B-AS1	Single nucleotide variant	Congenital central hypoventilation +1 more	GUncertain significance
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 348809	NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu)	LOC110011216, PHOX2B (A258E)	Single nucleotide variant (missense variant)	Haddad syndrome +4 more	GConflicting classifications of pathogenicity
Select item 348808	NM_003924.4(PHOX2B):c.*18G>A	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GConflicting classifications of pathogenicity
Select item 348807	NM_003924.4(PHOX2B):c.*19C>A	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GConflicting classifications of pathogenicity
Select item 348806	NM_003924.4(PHOX2B):c.*12GCG[4]	PHOX2B	Microsatellite (3 prime UTR variant)	Congenital central hypoventilation +2 more	GBenign/Likely benign
Select item 348805	NM_003924.4(PHOX2B):c.*12GCG[8]	PHOX2B	Microsatellite (3 prime UTR variant)	Congenital central hypoventilation +1 more	GUncertain significance
Select item 348804	NM_003924.4(PHOX2B):c.*58G>C	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 348803	NM_003924.4(PHOX2B):c.*60G>A	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GConflicting classifications of pathogenicity
Select item 348802	NM_003924.4(PHOX2B):c.*80G>A	PHOX2B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 348801	NM_003924.4(PHOX2B):c.*161G>A	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +2 more	GBenign
Select item 348800	NM_003924.4(PHOX2B):c.*194C>T	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GBenign
Select item 348799	NM_003924.4(PHOX2B):c.*550G>A	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GBenign
Select item 348798	NM_003924.4(PHOX2B):c.*549dup	PHOX2B	Duplication (3 prime UTR variant)	Congenital central hypoventilation +1 more	GLikely benign
Select item 348797	NM_003924.4(PHOX2B):c.*600T>G	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GBenign
Select item 348796	NM_003924.4(PHOX2B):c.*638G>C	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 348795	NM_003924.4(PHOX2B):c.*674dup	PHOX2B	Duplication (3 prime UTR variant)	Congenital central hypoventilation +1 more	GBenign
Select item 348794	NM_003924.4(PHOX2B):c.*693C>T	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GUncertain significance
Select item 348793	NM_003924.4(PHOX2B):c.*737C>T	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GUncertain significance
Select item 348792	NM_003924.4(PHOX2B):c.*1126C>G	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GBenign
Select item 348791	NM_003924.4(PHOX2B):c.*1156C>A	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GBenign
Select item 348790	NM_003924.4(PHOX2B):c.*1269A>G	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 348789	NM_003924.4(PHOX2B):c.*1310G>T	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 348788	NM_003924.4(PHOX2B):c.*1347A>G	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GBenign
Select item 348787	NM_003924.4(PHOX2B):c.*1364G>A	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GBenign
Select item 348786	NM_003924.4(PHOX2B):c.*1381C>T	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GBenign
Select item 348785	NM_003924.4(PHOX2B):c.*1387C>T	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GBenign
Select item 348784	NM_003924.4(PHOX2B):c.*1401C>G	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GUncertain significance
Select item 348783	NM_003924.4(PHOX2B):c.*1486T>C	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Congenital central hypoventilation +1 more	GUncertain significance
Select item 348782	NM_003924.4(PHOX2B):c.*1627G>A	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 348781	NM_003924.4(PHOX2B):c.*1644A>T	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 348780	NM_003924.4(PHOX2B):c.*1662A>T	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GBenign
Select item 348779	NM_003924.4(PHOX2B):c.*1701A>G	PHOX2B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma, susceptibility to, 2 +1 more	GUncertain significance
Select item 239596	NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser)	PHOX2B (G278S)	Single nucleotide variant (missense variant)	Congenital central hypoventilation +5 more	GConflicting classifications of pathogenicity
Select item 239594	NM_003924.4(PHOX2B):c.760G>A (p.Ala254Thr)	LOC110011216, PHOX2B (A254T)	Single nucleotide variant (missense variant)	not provided +5 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 239588	NM_003924.4(PHOX2B):c.639C>G (p.Gly213=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome +5 more	GBenign/Likely benign
Select item 239587	NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=)	PHOX2B-AS1, PHOX2B	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 227845	NM_003924.4(PHOX2B):c.726A>G (p.Ala242=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 227351	NM_207034.3(EDN3):c.565dup (p.Thr189fs)	EDN3 (T189fs)	Duplication	EDN3-related disorder +4 more	GBenign/Likely benign
Select item 227015	NM_003924.4(PHOX2B):c.552C>T (p.Ser184=)	PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 227014	NM_003924.4(PHOX2B):c.450C>G (p.Arg150=)	PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 220574	NM_020975.6(RET):c.1124T>A (p.Leu375Gln)	RET (L375Q +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 194426	NM_020975.6(RET):c.2454G>A (p.Glu818=)	RET	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 2 +8 more	GConflicting classifications of pathogenicity
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 +7 more	GConflicting classifications of pathogenicity
Select item 164944	NM_003924.4(PHOX2B):c.762A>C (p.Ala254=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome +5 more	GBenign
Select item 164943	NM_003924.4(PHOX2B):c.870C>A (p.Pro290=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome +5 more	GBenign
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 2 +9 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)	Ovarian cancer +12 more	GPathogenic/Likely pathogenic
Select item 24939	NM_020975.6(RET):c.2371T>A (p.Tyr791Asn)	RET (Y537N +16 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2B +8 more	GConflicting classifications of pathogenicity
Select item 24929	NM_020975.6(RET):c.1947G>A (p.Ser649=)	RET	Single nucleotide variant (synonymous variant +1 more)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 18333	NM_004316.4(ASCL1):c.114_128del (p.Ala43_Ala47del)	ASCL1, PAH	Deletion (inframe_deletion +1 more)	Congenital central hypoventilation	GUncertain significance
Select item 18332	NM_004316.4(ASCL1):c.52C>A (p.Pro18Thr)	ASCL1, PAH (P18T)	Single nucleotide variant (missense variant +1 more)	Congenital central hypoventilation	GUncertain significance
Select item 17696	NM_001709.5(BDNF):c.5C>T (p.Thr2Ile)	BDNF, BDNF-AS (T2I +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 13947	NM_020975.6(RET):c.341G>A (p.Arg114His)	RET (R114H)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +8 more	GBenign/Likely benign

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