"Myriad Genetics, Inc."[submitter] AND "LOXHD1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1724401	NM_001384474.1(LOXHD1):c.6106_6107insA (p.Leu2036fs)	LOXHD1 (L1974fs +4 more)	Insertion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1726505	NM_001384474.1(LOXHD1):c.5992_5998delinsCA (p.Thr1998fs)	LOXHD1 (T1936fs +4 more)	Indel (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1724189	NM_001384474.1(LOXHD1):c.5988del (p.Gln1997fs)	LOXHD1 (Q1935fs +4 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1726707	NM_001384474.1(LOXHD1):c.5668_5669del (p.Ala1890fs)	LOXHD1 (A129fs +4 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1726026	NM_001384474.1(LOXHD1):c.5619T>A (p.Cys1873Ter)	LOXHD1 (C112* +4 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1724198	NM_001384474.1(LOXHD1):c.5527A>T (p.Lys1843Ter)	LOXHD1 (K1781* +4 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1725311	NM_001384474.1(LOXHD1):c.5458_5459del (p.Thr1820fs)	LOXHD1 (T1758fs +4 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1725975	NM_001384474.1(LOXHD1):c.5413C>T (p.Gln1805Ter)	LOXHD1 (Q1743* +4 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 47945	NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys)	LOXHD1 (E1742K +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77 +2 more	GUncertain significance
Select item 1724082	NM_001384474.1(LOXHD1):c.5383_5384insCACACAC (p.Asp1795fs)	LOXHD1 (D1733fs +4 more)	Insertion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1725801	NM_001384474.1(LOXHD1):c.4738A>T (p.Lys1580Ter)	LOXHD1 (K1580* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1723969	NM_001384474.1(LOXHD1):c.4582A>T (p.Lys1528Ter)	LOXHD1 (K1528* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1726030	NM_001384474.1(LOXHD1):c.3892C>T (p.Gln1298Ter)	LOXHD1 (Q1298* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1725280	NM_001384474.1(LOXHD1):c.3544A>T (p.Lys1182Ter)	LOXHD1 (K1182* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1724895	NM_001384474.1(LOXHD1):c.2395G>T (p.Glu799Ter)	LOXHD1 (E799*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1726536	NM_001384474.1(LOXHD1):c.1933C>T (p.Gln645Ter)	LOXHD1 (Q645*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1724631	NM_001384474.1(LOXHD1):c.1798G>T (p.Glu600Ter)	LOXHD1 (E600*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1725298	NM_001384474.1(LOXHD1):c.1483A>T (p.Lys495Ter)	LOXHD1 (K495*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1724773	NM_001384474.1(LOXHD1):c.1357A>T (p.Lys453Ter)	LOXHD1 (K453*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1724767	NM_001384474.1(LOXHD1):c.1217T>A (p.Leu406Ter)	LOXHD1 (L406*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1724064	NM_001384474.1(LOXHD1):c.1190G>A (p.Trp397Ter)	LOXHD1 (W397*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1726821	NM_001384474.1(LOXHD1):c.963T>A (p.Tyr321Ter)	LOXHD1 (Y321*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1725409	NM_001384474.1(LOXHD1):c.464G>A (p.Trp155Ter)	LOXHD1 (W155*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1725355	NM_001384474.1(LOXHD1):c.205G>T (p.Gly69Ter)	LOXHD1 (G69*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic

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Items: 24