ClinVar for MedGen (Select 377694) - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1696489	NM_181458.4(PAX3):c.683C>T (p.Ala228Val)	PAX3 (A227V +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1 +2 more	GUncertain significance
Select item 1686005	NM_181458.4(PAX3):c.792+2T>C	PAX3	Single nucleotide variant (splice donor variant)	Craniofacial-deafness-hand syndrome	GPathogenic
Select item 1306788	NM_181458.4(PAX3):c.1036T>C (p.Ser346Pro)	LOC126806529, PAX3 (S345P +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 3 +4 more	GUncertain significance
Select item 1027898	NM_181458.4(PAX3):c.467G>C (p.Arg156Pro)	PAX3 (R155P +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 3 +1 more	GUncertain significance
Select item 899204	NM_181458.4(PAX3):c.144C>T (p.Gly48=)	PAX3	Single nucleotide variant (synonymous variant)	Waardenburg syndrome +1 more	GUncertain significance
Select item 899135	NM_181458.4(PAX3):c.1012A>T (p.Thr338Ser)	LOC126806529, PAX3 (T338S +1 more)	Single nucleotide variant (missense variant)	Craniofacial-deafness-hand syndrome +2 more	GUncertain significance
Select item 898078	NM_181458.4(PAX3):c.342G>A (p.Val114=)	PAX3	Single nucleotide variant (synonymous variant)	Waardenburg syndrome +1 more	GUncertain significance
Select item 898020	NM_181458.4(PAX3):c.1240C>T (p.Pro414Ser)	PAX3 (P413S +1 more)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 896459	NM_181458.4(PAX3):c.567C>T (p.Asp189=)	PAX3	Single nucleotide variant (synonymous variant)	not provided +2 more	GUncertain significance
Select item 896392	NM_181458.4(PAX3):c.1253G>T (p.Gly418Val)	PAX3 (G418V +1 more)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 896391	NM_181458.4(PAX3):c.1420+103C>T	PAX3	Single nucleotide variant (3 prime UTR variant +1 more)	Craniofacial-deafness-hand syndrome +1 more	GUncertain significance
Select item 895088	NM_181458.4(PAX3):c.-99C>T	CCDC140, LOC107980445 +1 more	Single nucleotide variant (5 prime UTR variant)	Waardenburg syndrome +1 more	GUncertain significance
Select item 895017	NM_181458.4(PAX3):c.981C>T (p.Thr327=)	LOC126806529, PAX3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 894956	NM_181458.4(PAX3):c.1420+165G>T	PAX3	Single nucleotide variant (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 894955	NM_181458.4(PAX3):c.1420+186G>A	PAX3	Single nucleotide variant (3 prime UTR variant +1 more)	Craniofacial-deafness-hand syndrome +1 more	GBenign
Select item 743485	NM_181458.4(PAX3):c.1248C>T (p.Thr416=)	PAX3	Single nucleotide variant (synonymous variant +1 more)	Waardenburg syndrome +2 more	GConflicting classifications of pathogenicity
Select item 739452	NM_181458.4(PAX3):c.1029G>A (p.Thr343=)	LOC126806529, PAX3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 504788	NM_181458.4(PAX3):c.540C>G (p.Ser180Arg)	PAX3 (S180R +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 3 +6 more	GConflicting classifications of pathogenicity
Select item 504786	NM_181458.4(PAX3):c.580G>A (p.Glu194Lys)	PAX3 (E194K +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 504759	NM_181458.4(PAX3):c.958+9G>A	LOC126806529, PAX3	Single nucleotide variant (intron variant)	Craniofacial-deafness-hand syndrome +3 more	GConflicting classifications of pathogenicity
Select item 334567	NM_181458.4(PAX3):c.-359G>T	CCDC140, LOC107980445 +1 more	Single nucleotide variant (5 prime UTR variant)	Waardenburg syndrome +1 more	GBenign
Select item 334566	NM_181458.4(PAX3):c.-248A>C	CCDC140, LOC107980445 +1 more	Single nucleotide variant (5 prime UTR variant)	Waardenburg syndrome +1 more	GUncertain significance
Select item 334565	NM_181458.4(PAX3):c.-205C>T	CCDC140, LOC107980445 +1 more	Single nucleotide variant (5 prime UTR variant)	Craniofacial-deafness-hand syndrome +1 more	GBenign
Select item 334564	NM_181458.4(PAX3):c.-156C>A	CCDC140, LOC107980445 +1 more	Single nucleotide variant (5 prime UTR variant)	Waardenburg syndrome +1 more	GUncertain significance
Select item 334563	NM_181458.4(PAX3):c.-156C>T	CCDC140, LOC107980445 +1 more	Single nucleotide variant (5 prime UTR variant)	Waardenburg syndrome +1 more	GUncertain significance
Select item 334562	NM_181458.4(PAX3):c.47C>T (p.Pro16Leu)	CCDC140, PAX3 (P16L)	Single nucleotide variant (missense variant)	Waardenburg syndrome +2 more	GUncertain significance
Select item 334561	NM_181458.4(PAX3):c.126C>A (p.Gly42=)	PAX3	Single nucleotide variant (synonymous variant)	PAX3-related disorder +4 more	GBenign/Likely benign
Select item 334560	NM_181458.4(PAX3):c.807C>T (p.Asn269=)	PAX3	Single nucleotide variant (synonymous variant)	Waardenburg syndrome +4 more	GBenign
Select item 334559	NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu)	LOC126806529, PAX3 (P373L +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome +4 more	GConflicting classifications of pathogenicity
Select item 334558	NM_181458.4(PAX3):c.1204G>A (p.Val402Ile)	PAX3 (V402I +1 more)	Single nucleotide variant (missense variant +1 more)	Craniofacial-deafness-hand syndrome +2 more	GUncertain significance
Select item 334557	NM_181458.4(PAX3):c.1229A>T (p.Tyr410Phe)	PAX3 (Y410F +1 more)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 334556	NM_181458.4(PAX3):c.1420+55C>T	PAX3	Single nucleotide variant (intron variant +1 more)	Craniofacial-deafness-hand syndrome +1 more	GBenign
Select item 334555	NM_181458.4(PAX3):c.1420+104G>A	PAX3	Single nucleotide variant (intron variant +1 more)	Craniofacial-deafness-hand syndrome +1 more	GBenign
Select item 334554	NM_181458.4(PAX3):c.1420+125T>G	PAX3	Single nucleotide variant (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 334553	NM_181458.4(PAX3):c.1420+112dup	PAX3	Duplication (3 prime UTR variant +1 more)	Waardenburg syndrome +2 more	GConflicting classifications of pathogenicity
Select item 334552	NM_181458.4(PAX3):c.1420+201C>T	PAX3	Single nucleotide variant (3 prime UTR variant +1 more)	Craniofacial-deafness-hand syndrome +1 more	GUncertain significance
Select item 334551	NM_181458.4(PAX3):c.1420+220C>T	PAX3	Single nucleotide variant (intron variant +1 more)	Craniofacial-deafness-hand syndrome +1 more	GBenign
Select item 279964	NM_181458.4(PAX3):c.812G>A (p.Arg271His)	PAX3 (R271H +1 more)	Single nucleotide variant (missense variant)	Alveolar rhabdomyosarcoma +4 more	GPathogenic
Select item 226998	NM_181458.4(PAX3):c.1174-10G>C	PAX3	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 226997	NM_181458.4(PAX3):c.879G>T (p.Gly293=)	PAX3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 226996	NM_181458.4(PAX3):c.873C>T (p.Pro291=)	PAX3	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 226995	NM_181458.4(PAX3):c.321+10C>A	PAX3	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 226994	NM_181458.4(PAX3):c.156C>G (p.Pro52=)	PAX3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 226993	NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser)	LOC126806529, PAX3 (P334S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 226992	NM_181458.4(PAX3):c.525G>C (p.Lys175Asn)	PAX3 (K175N +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome +5 more	GBenign/Likely benign
Select item 218940	NM_181458.4(PAX3):c.944C>A (p.Thr315Lys)	PAX3 (T315K +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 195432	NM_181458.4(PAX3):c.129T>C (p.Gly43=)	PAX3	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 4213	NM_181458.4(PAX3):c.141C>G (p.Asn47Lys)	PAX3 (N47K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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Items: 48