ClinVar for MedGen (Select 341244) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233625	NM_001122659.3(EDNRB):c.902del (p.Met300_Leu301insTer)	EDNRB, EDNRB-AS1	Deletion (nonsense +1 more)	Waardenburg syndrome type 4A	GPathogenic
Select item 3064541	NM_001122659.3(EDNRB):c.292G>T (p.Glu98Ter)	EDNRB (E188* +1 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 4A	GPathogenic
Select item 2585621	NM_001122659.3(EDNRB):c.688G>C (p.Val230Leu)	EDNRB, EDNRB-AS1 (V230L +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4A	GUncertain significance
Select item 2584680	NM_001122659.3(EDNRB):c.886A>G (p.Met296Val)	EDNRB, EDNRB-AS1 (M296V +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4A	GUncertain significance
Select item 1526124	NM_001122659.3(EDNRB):c.1265_1283del (p.Lys422fs)	EDNRB, EDNRB-AS1 (K422fs +1 more)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 4A	GUncertain significance
Select item 1334125	NM_001122659.3(EDNRB):c.801+2T>C	EDNRB, EDNRB-AS1	Single nucleotide variant (splice donor variant)	Waardenburg syndrome type 4A	GLikely pathogenic
Select item 1333432	NM_001122659.3(EDNRB):c.801+1G>T	EDNRB, EDNRB-AS1	Single nucleotide variant (splice donor variant)	Waardenburg syndrome type 4A	GLikely pathogenic
Select item 1218338	NM_001122659.3(EDNRB):c.1212G>A (p.Trp404Ter)	EDNRB, EDNRB-AS1 (W404* +1 more)	Single nucleotide variant (nonsense +1 more)	ABCD syndrome +3 more	GUncertain significance
Select item 1064933	NM_001201397.2(EDNRB):c.18T>A (p.Cys6Ter)	EDNRB, LOC107882129 (C6*)	Single nucleotide variant (nonsense +1 more)	EDNRB-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1064870	NM_001122659.3(EDNRB):c.1103A>T (p.Asp368Val)	EDNRB, EDNRB-AS1 (D368V +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4A	GUncertain significance
Select item 1064869	NM_001122659.3(EDNRB):c.777del (p.Val260fs)	EDNRB, EDNRB-AS1 (V260fs +1 more)	Deletion (frameshift variant)	Waardenburg syndrome type 4A	GLikely pathogenic
Select item 620636	NM_006941.4(SOX10):c.1315_1329del (p.Ile439_Ser443del)	POLR2F, SOX10	Deletion (inframe_indel +2 more)	Waardenburg syndrome type 4A	GPathogenic
Select item 619136	NM_001122659.3(EDNRB):c.553G>A (p.Val185Met)	EDNRB-AS1, EDNRB (V185M +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4A +4 more	GConflicting classifications of pathogenicity
Select item 590850	NM_006941.4(SOX10):c.429-1G>A	POLR2F, SOX10	Single nucleotide variant (intron variant +1 more)	Waardenburg syndrome type 4A	GPathogenic
Select item 585146	NM_001122659.3(EDNRB):c.778G>T (p.Val260Phe)	EDNRB, EDNRB-AS1 (V260F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 547950	NM_001122659.3(EDNRB):c.791C>T (p.Ala264Val)	EDNRB, EDNRB-AS1 (A264V +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4A	GUncertain significance
Select item 547295	NM_001122659.3(EDNRB):c.973G>A (p.Val325Ile)	EDNRB, EDNRB-AS1 (V325I +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4A +1 more	GUncertain significance
Select item 547294	NM_001122659.3(EDNRB):c.550T>C (p.Ser184Pro)	EDNRB, EDNRB-AS1 (S184P +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4A	GLikely pathogenic
Select item 547293	NM_001122659.3(EDNRB):c.521del (p.Cys174fs)	EDNRB, EDNRB-AS1 (C174fs +1 more)	Deletion (frameshift variant)	Waardenburg syndrome type 4A	GPathogenic
Select item 545012	NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter)	EDNRB (C109* +1 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 4A	GPathogenic/Likely pathogenic
Select item 545011	NM_001122659.3(EDNRB):c.403G>A (p.Gly135Ser)	EDNRB (G135S +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4A	GUncertain significance
Select item 228662	NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg)	EDNRB, EDNRB-AS1 (G429R +1 more)	Single nucleotide variant (missense variant +1 more)	Hirschsprung Disease, Recessive +7 more	GUncertain significance
Select item 226625	NM_001122659.3(EDNRB):c.552T>C (p.Ser184=)	EDNRB-AS1, EDNRB	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 225346	NM_001122659.3(EDNRB):c.-26G>A	EDNRB (R82Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 16640	NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter)	EDNRB, EDNRB-AS1 (R201* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 16639	NM_001122659.3(EDNRB):c.757C>T (p.Arg253Ter)	EDNRB, EDNRB-AS1 (R253* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 16638	NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn)	EDNRB, EDNRB-AS1 (S305N +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 16634	NM_001122659.3(EDNRB):c.548C>G (p.Ala183Gly)	EDNRB, EDNRB-AS1 (A183G +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4A	GPathogenic
Select item 16633	NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys)	EDNRB, EDNRB-AS1 (W276C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 29