ClinVar (all) for Orgtrack (Select 506548) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1220524	NM_006941.4(SOX10):c.12_13delinsAT (p.Gln5Ter)	POLR2F, SOX10 (Q5*)	Indel (nonsense +1 more)	Waardenburg syndrome type 2E	GPathogenic
Select item 1202636	Single allele	MITF	Deletion	Waardenburg syndrome type 2A	GPathogenic
Select item 1202633	NM_006941.4(SOX10):c.448A>G (p.Lys150Glu)	POLR2F, SOX10 (K150E)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 4C	GPathogenic
Select item 1202632	NM_181458.4(PAX3):c.586+2T>A	PAX3	Single nucleotide variant (splice donor variant +1 more)	Waardenburg syndrome type 1	GPathogenic
Select item 1202631	NM_001354604.2(MITF):c.644dup (p.His215fs)	MITF (H108fs +6 more)	Duplication (frameshift variant)	Waardenburg syndrome type 2A	GPathogenic
Select item 1202630	NM_181458.4(PAX3):c.281G>T (p.Gly94Val)	PAX3 (G94V)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 1202629	NM_001354604.2(MITF):c.1070C>A (p.Ser357Tyr)	MITF (S188Y +9 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 2A	GLikely pathogenic
Select item 1202622	NM_000441.2(SLC26A4):c.1662T>G (p.Ile554Met)	SLC26A4 (I554M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GUncertain significance
Select item 1202621	NM_004004.6(GJB2):c.79_82delinsAGA (p.Val27fs)	GJB2 (V27fs)	Indel (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 1A	GPathogenic
Select item 1185578	NM_194248.3(OTOF):c.3049G>T (p.Glu1017Ter)	OTOF (E1017* +2 more)	Single nucleotide variant (nonsense)	Bilateral sensorineural hearing impairment +2 more	GPathogenic
Select item 1033029	NM_000441.2(SLC26A4):c.1615-2A>G	SLC26A4	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 803332	NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs)	MYO15A (S1176fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 803330	NM_016239.4(MYO15A):c.1615C>T (p.Gln539Ter)	MYO15A (Q539*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 801613	NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)	USH2A (W2644*)	Single nucleotide variant (nonsense)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 801611	NM_206933.4(USH2A):c.10385C>T (p.Thr3462Ile)	USH2A (T3462I)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GConflicting classifications of pathogenicity
Select item 617675	NM_017433.5(MYO3A):c.2090T>G (p.Leu697Trp)	MYO3A (L697W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 550516	NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile)	SLC26A4 (F161I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 544693	NM_004999.4(MYO6):c.2717C>A (p.Ser906Ter)	MYO6 (S906* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant nonsyndromic hearing loss 22	GPathogenic
Select item 503680	NM_181458.4(PAX3):c.667C>T (p.Arg223Ter)	PAX3 (R223* +1 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 1 +2 more	GPathogenic
Select item 488044	NM_006941.4(SOX10):c.44_62del (p.Val15fs)	POLR2F, SOX10 (V15fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 4C +1 more	GPathogenic/Likely pathogenic
Select item 432009	NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met)	TMPRSS3 (V116M)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GPathogenic/Likely pathogenic
Select item 375217	NM_001354604.2(MITF):c.956-1G>A	MITF	Single nucleotide variant (splice acceptor variant)	Waardenburg syndrome type 2A +2 more	GPathogenic
Select item 188878	NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)	SLC26A4 (R185T)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic FDA Recognized database
Select item 178508	NM_194248.3(OTOF):c.3332C>T (p.Pro1111Leu)	OTOF (P1111L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 65798	NM_194248.3(OTOF):c.3400C>T (p.Arg1134Ter)	OTOF (R1134* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GPathogenic
Select item 48187	NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter)	OTOF (W718*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 46131	NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr)	TMPRSS3 (A306T +1 more)	Single nucleotide variant (missense variant)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 46119	NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)	TMPRSS3 (A138E +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +4 more	GPathogenic/Likely pathogenic
Select item 46102	NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)	TMPRSS3 (A426T +2 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +3 more	GPathogenic/Likely pathogenic
Select item 43496	NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)	SLC26A4 (R409H)	Single nucleotide variant (missense variant)	Rare genetic deafness +5 more	GPathogenic/Likely pathogenic
Select item 4835	NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe)	SLC26A4 (V138F)	Single nucleotide variant (missense variant)	Pendred syndrome	GPathogenic FDA Recognized database

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Items: 31