"Revvity Omics, Revvity"[submitter] AND "LOXHD1"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 498529	NM_001384474.1(LOXHD1):c.6743C>T (p.Thr2248Ile)	LOXHD1 (T2186I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2433498	NM_001384474.1(LOXHD1):c.5985C>G (p.Asp1995Glu)	LOXHD1 (D1933E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2689376	NM_001384474.1(LOXHD1):c.5003G>A (p.Arg1668Gln)	LOXHD1 (R1668Q +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 554146	NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter)	LOXHD1 (R1668* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77 +2 more	GPathogenic/Likely pathogenic
Select item 844654	NM_001384474.1(LOXHD1):c.4531-2A>G	LOXHD1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 77 +1 more	GLikely pathogenic
Select item 178396	NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)	LOXHD1 (R1494* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77 +4 more	GPathogenic/Likely pathogenic
Select item 643628	NM_001384474.1(LOXHD1):c.4212+1G>A	LOXHD1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1453134	NM_001384474.1(LOXHD1):c.3401_3404dup (p.Ser1136fs)	LOXHD1 (S1136fs +1 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2030171	NM_001384474.1(LOXHD1):c.2598+1G>A	LOXHD1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 228820	NM_001384474.1(LOXHD1):c.2399T>A (p.Val800Glu)	LOXHD1 (V800E)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 2689377	NM_001384474.1(LOXHD1):c.2219C>T (p.Thr740Ile)	LOXHD1 (T740I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 890049	NM_001384474.1(LOXHD1):c.2036C>T (p.Ala679Val)	LOXHD1 (A679V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 498162	NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs)	LOXHD1 (L513fs)	Microsatellite (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 77 +2 more	GPathogenic/Likely pathogenic
Select item 1323244	NM_001384474.1(LOXHD1):c.1228C>T (p.Gln410Ter)	LOXHD1 (Q410*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77 +1 more	GPathogenic
Select item 2689375	NM_001384474.1(LOXHD1):c.182C>T (p.Ala61Val)	LOXHD1 (A61V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 1457353	NM_001384474.1(LOXHD1):c.71del (p.Leu24fs)	LOXHD1 (L24fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic