"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOXHD1"[g - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 178389	NM_001145472.3(LOXHD1):c.3340G>A (p.Gly1114Arg)	LOXHD1 (G1114R)	Single nucleotide variant (missense variant +1 more)	LOXHD1-related disorder +2 more	GBenign/Likely benign
Select item 47951	NM_001384474.1(LOXHD1):c.6584G>A (p.Arg2195His)	LOXHD1 (R2133H +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 281731	NM_001384474.1(LOXHD1):c.6516C>T (p.Ala2172=)	LOXHD1	Single nucleotide variant (synonymous variant)	LOXHD1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 799584	NM_001384474.1(LOXHD1):c.6483A>G (p.Thr2161=)	LOXHD1	Single nucleotide variant (synonymous variant)	LOXHD1-related disorder +1 more	GLikely benign
Select item 47949	NM_001384474.1(LOXHD1):c.6293C>T (p.Ala2098Val)	LOXHD1 (A2036V +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 730806	NM_001384474.1(LOXHD1):c.6220T>C (p.Leu2074=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 262524	NM_001384474.1(LOXHD1):c.6183-11del	LOXHD1	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 3059712	NM_001384474.1(LOXHD1):c.6182+4G>A	LOXHD1	Single nucleotide variant (intron variant)	LOXHD1-related disorder	GLikely benign
Select item 179310	NM_001384474.1(LOXHD1):c.6055G>A (p.Glu2019Lys)	LOXHD1 (E1957K +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77 +3 more	GUncertain significance
Select item 47946	NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys)	LOXHD1 (N1872K +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1140379	NM_001384474.1(LOXHD1):c.5739C>T (p.Asn1913=)	LOXHD1	Single nucleotide variant (synonymous variant)	LOXHD1-related disorder +1 more	GLikely benign
Select item 178394	NM_001384474.1(LOXHD1):c.5692+12G>A	LOXHD1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 163895	NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=)	LOXHD1	Single nucleotide variant (synonymous variant)	LOXHD1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1081434	NM_001384474.1(LOXHD1):c.5661C>T (p.Tyr1887=)	LOXHD1	Single nucleotide variant (synonymous variant)	LOXHD1-related disorder +1 more	GLikely benign
Select item 47944	NM_001384474.1(LOXHD1):c.5399+13G>A	LOXHD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 47943	NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3043342	NM_001384474.1(LOXHD1):c.5247C>T (p.Ala1749=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	LOXHD1-related disorder	GLikely benign
Select item 1151057	NM_001384474.1(LOXHD1):c.5237T>C (p.Leu1746Pro)	LOXHD1 (L1746P +2 more)	Single nucleotide variant (missense variant +1 more)	LOXHD1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 227528	NM_001384474.1(LOXHD1):c.5050G>A (p.Ala1684Thr)	LOXHD1 (A1684T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77 +3 more	GConflicting classifications of pathogenicity
Select item 262523	NM_001384474.1(LOXHD1):c.5028C>T (p.Gly1676=)	LOXHD1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 178395	NM_001384474.1(LOXHD1):c.5023C>T (p.Arg1675Cys)	LOXHD1 (R1675C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77 +3 more	GConflicting classifications of pathogenicity
Select item 47941	NM_001384474.1(LOXHD1):c.4868A>G (p.Glu1623Gly)	LOXHD1 (E1623G +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 163902	NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile)	LOXHD1 (V1608I +2 more)	Single nucleotide variant (missense variant)	LOXHD1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 720776	NM_001384474.1(LOXHD1):c.4818C>T (p.Ala1606=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 227524	NM_001384474.1(LOXHD1):c.4720G>A (p.Glu1574Lys)	LOXHD1 (E1574K +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 262522	NM_001384474.1(LOXHD1):c.4611C>T (p.Cys1537=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 262521	NM_001384474.1(LOXHD1):c.4531-19C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 163906	NM_001384474.1(LOXHD1):c.4376-6G>A	LOXHD1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 745284	NM_001384474.1(LOXHD1):c.4244G>A (p.Arg1415Gln)	LOXHD1 (R304Q +2 more)	Single nucleotide variant (missense variant)	LOXHD1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 178397	NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val)	LOXHD1 (A1406V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 163909	NM_001384474.1(LOXHD1):c.4149G>A (p.Thr1383=)	LOXHD1	Single nucleotide variant (synonymous variant)	LOXHD1-related disorder +3 more	GLikely benign
Select item 47937	NM_001384474.1(LOXHD1):c.4148C>T (p.Thr1383Met)	LOXHD1 (T1383M +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 505093	NM_001384474.1(LOXHD1):c.4147A>G (p.Thr1383Ala)	LOXHD1 (T1383A +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 262520	NM_001384474.1(LOXHD1):c.4089C>T (p.Ile1363=)	LOXHD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 228824	NM_001384474.1(LOXHD1):c.3941C>T (p.Thr1314Ile)	LOXHD1 (T1314I +2 more)	Single nucleotide variant (missense variant)	LOXHD1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 262519	NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=)	LOXHD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 163913	NM_001384474.1(LOXHD1):c.3673A>G (p.Ser1225Gly)	LOXHD1 (S1225G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 666627	NM_001384474.1(LOXHD1):c.3619+9G>A	LOXHD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 47934	NM_001384474.1(LOXHD1):c.3463A>G (p.Arg1155Gly)	LOXHD1 (R1155G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 1590716	NM_001384474.1(LOXHD1):c.3453C>T (p.Ser1151=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 504610	NM_001384474.1(LOXHD1):c.3449A>G (p.Gln1150Arg)	LOXHD1 (Q1150R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 47933	NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln)	LOXHD1 (R1090Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 227515	NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=)	LOXHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 77 +3 more	GConflicting classifications of pathogenicity
Select item 2633894	NM_001384474.1(LOXHD1):c.2850del (p.Asp950fs)	LOXHD1 (D950fs)	Deletion (frameshift variant)	LOXHD1-related disorder	GLikely pathogenic
Select item 262518	NM_001384474.1(LOXHD1):c.2841C>T (p.Asp947=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 226714	NM_001384474.1(LOXHD1):c.2816AGA[3] (p.Lys942del)	LOXHD1 (K942del)	Microsatellite (inframe_deletion)	not specified +2 more	GBenign/Likely benign
Select item 930147	NM_001384474.1(LOXHD1):c.2729C>T (p.Pro910Leu)	LOXHD1 (P910L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1141646	NM_001384474.1(LOXHD1):c.2718G>A (p.Val906=)	LOXHD1	Single nucleotide variant (synonymous variant)	LOXHD1-related disorder +1 more	GLikely benign
Select item 1153999	NM_001384474.1(LOXHD1):c.2655G>A (p.Glu885=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1151416	NM_001384474.1(LOXHD1):c.2599-10C>T	LOXHD1	Single nucleotide variant (intron variant)	LOXHD1-related disorder +1 more	GLikely benign
Select item 47928	NM_001384474.1(LOXHD1):c.2473G>A (p.Val825Met)	LOXHD1 (V825M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 178614	NM_001384474.1(LOXHD1):c.2370C>T (p.Asp790=)	LOXHD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 228816	NM_001384474.1(LOXHD1):c.2288C>T (p.Ala763Val)	LOXHD1 (A763V)	Single nucleotide variant (missense variant)	LOXHD1-related disorder +1 more	GUncertain significance
Select item 517569	NM_001384474.1(LOXHD1):c.2251C>A (p.Arg751=)	LOXHD1	Single nucleotide variant (synonymous variant)	LOXHD1-related disorder +2 more	GLikely benign
Select item 47926	NM_001384474.1(LOXHD1):c.2175C>T (p.Asn725=)	LOXHD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 395	NM_001384474.1(LOXHD1):c.2008C>T (p.Arg670Ter)	LOXHD1 (R670*)	Single nucleotide variant (nonsense)	LOXHD1-related disorder +1 more	GPathogenic
Select item 493237	NM_001384474.1(LOXHD1):c.1893C>T (p.Ser631=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 178400	NM_001384474.1(LOXHD1):c.1843C>A (p.Arg615=)	LOXHD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1087103	NM_001384474.1(LOXHD1):c.1746G>A (p.Gly582=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 163928	NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg)	LOXHD1 (L577R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77 +3 more	GUncertain significance
Select item 163929	NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile)	LOXHD1 (M539I)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 163930	NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)	LOXHD1 (R524C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1097346	NM_001384474.1(LOXHD1):c.1431+9G>A	LOXHD1	Single nucleotide variant (intron variant)	LOXHD1-related disorder +1 more	GLikely benign
Select item 47916	NM_001384474.1(LOXHD1):c.1087G>A (p.Val363Ile)	LOXHD1 (V363I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1457552	NM_001384474.1(LOXHD1):c.1021C>T (p.Arg341Ter)	LOXHD1 (R341*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 178615	NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=)	LOXHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 77 +2 more	GConflicting classifications of pathogenicity
Select item 2920453	NM_001384474.1(LOXHD1):c.884-4C>A	LOXHD1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 262525	NM_001384474.1(LOXHD1):c.759+11C>T	LOXHD1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 198278	NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser)	LOXHD1 (N241S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 163938	NM_001384474.1(LOXHD1):c.177G>A (p.Thr59=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 793848	NM_001384474.1(LOXHD1):c.131-5T>C	LOXHD1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign

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Items: 71