ClinVar (all) for Orgtrack (Select 508035) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1064655	NM_000441.2(SLC26A4):c.1371C>G (p.Asn457Lys)	SLC26A4 (N457K)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 1064654	NM_016239.4(MYO15A):c.4030C>T (p.Gln1344Ter)	MYO15A (Q1344*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 1064653	NM_001384474.1(LOXHD1):c.4194G>T (p.Arg1398Ser)	LOXHD1 (R1398S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 1064652	NM_001384474.1(LOXHD1):c.4936C>T (p.Arg1646Ter)	LOXHD1 (R1646* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77 +1 more	GPathogenic/Likely pathogenic
Select item 1064651	NM_005548.3(KARS1):c.797T>C (p.Ile266Thr)	KARS1 (I110T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 89 +1 more	GUncertain significance
Select item 1064650	NM_013296.5(GPSM2):c.858_859delinsGT (p.Tyr286_Ser287delinsTer)	GPSM2	Indel (nonsense)	Chudley-McCullough syndrome	GLikely pathogenic
Select item 585268	NM_005797.4(MPZL2):c.72del (p.Ile24fs)	MPZL2 (I24fs)	Deletion (frameshift variant)	Hearing loss, autosomal recessive +2 more	GPathogenic/Likely pathogenic
Select item 562001	NM_005548.3(KARS1):c.787T>G (p.Phe263Val)	KARS1 (F291V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 375406	NM_004004.6(GJB2):c.-22-2A>C	GJB2	Single nucleotide variant (splice acceptor variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 228958	NM_016239.4(MYO15A):c.5693G>A (p.Arg1898Gln)	MYO15A (R1898Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +2 more	GConflicting classifications of pathogenicity
Select item 228700	NM_004004.6(GJB2):c.-22-6T>C	GJB2	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 228391	NM_000307.5(POU3F4):c.607_610del (p.Gln203fs)	POU3F4 (Q203fs)	Microsatellite (frameshift variant)	Rare genetic deafness +1 more	GPathogenic
Select item 88860	NM_032229.3(SLITRK6):c.1240C>T (p.Gln414Ter)	SLITRK6 (Q414*)	Single nucleotide variant (nonsense)	High myopia-sensorineural deafness syndrome +2 more	GPathogenic/Likely pathogenic
Select item 43553	NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr)	SLC26A4-AS1, SLC26A4 (M1T)	Single nucleotide variant (non-coding transcript variant +2 more)	Pendred syndrome +4 more	GPathogenic