Related gene-specific medical variations for Gene (Select 125336) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361725	NM_001384474.1(LOXHD1):c.6520G>A (p.Val2174Ile)	LOXHD1 (V1063I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242821	NC_000018.9:g.(?_44065060)_(44071195_?)del	LOXHD1	Deletion	not provided	GLikely pathogenic
Select item 3242819	NC_000018.9:g.(?_44089712)_(44098801_?)del	LOXHD1	Deletion	not provided	GLikely pathogenic
Select item 3242818	NC_000018.9:g.(?_44190818)_(44195164_?)del	LOXHD1	Deletion	not provided	GLikely pathogenic
Select item 3242817	NC_000018.9:g.(?_44198135)_(44222019_?)dup	LOXHD1	Duplication	not provided	GLikely pathogenic
Select item 3242816	NC_000018.9:g.(?_44139391)_(44140528_?)del	LOXHD1	Deletion	not provided	GPathogenic
Select item 3242815	NC_000018.9:g.(?_44085781)_(44143208_?)del	LOXHD1	Deletion	not provided	GPathogenic
Select item 3242814	NC_000018.9:g.(?_44089641)_(44089798_?)del	LOXHD1	Deletion	not provided	GPathogenic
Select item 3242813	NC_000018.9:g.(?_44139401)_(44139575_?)del	LOXHD1	Deletion	not provided	GPathogenic
Select item 3220923	NM_001384474.1(LOXHD1):c.486_487delinsGG (p.Ser162_Phe163delinsArgVal)	LOXHD1	Indel (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
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 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 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 1319170	NM_001384474.1(LOXHD1):c.3351-1G>C	LOXHD1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 995177	NM_001384474.1(LOXHD1):c.4760G>C (p.Ser1587Thr)	LOXHD1 (S1587T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992168	NM_001384474.1(LOXHD1):c.4993G>T (p.Asp1665Tyr)	LOXHD1 (D1665Y +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 992167	NM_001384474.1(LOXHD1):c.5722A>C (p.Ile1908Leu)	LOXHD1 (I147L +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 992166	NM_001384474.1(LOXHD1):c.5942T>C (p.Phe1981Ser)	LOXHD1 (F1919S +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 990074	NM_001384474.1(LOXHD1):c.246-5T>C	LOXHD1	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 990073	NM_001384474.1(LOXHD1):c.1371T>A (p.Asp457Glu)	LOXHD1 (D457E)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 990070	NM_001384474.1(LOXHD1):c.2910G>A (p.Met970Ile)	LOXHD1 (M970I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 990069	NM_001384474.1(LOXHD1):c.3283A>G (p.Asn1095Asp)	LOXHD1 (N1095D)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 808413	GRCh37/hg19 18q21.1(chr18:44219579-44221999)x1	LOXHD1	Copy number loss	not provided	GLikely pathogenic
Select item 448957	NM_001384474.1(LOXHD1):c.746G>A (p.Trp249Ter)	LOXHD1 (W249*)	Single nucleotide variant (nonsense)	Deafness	GPathogenic
Select item 262523	NM_001384474.1(LOXHD1):c.5028C>T (p.Gly1676=)	LOXHD1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 92027	NM_001384474.1(LOXHD1):c.2813G>A (p.Arg938Lys)	LOXHD1 (R938K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Links from Gene

Items: 26