"Athena Diagnostics Inc"[submitter] AND "LOXHD1"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 163884	NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln)	LOXHD1 (R2138Q +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77 +2 more	GConflicting classifications of pathogenicity
Select item 178393	NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys)	LOXHD1 (E1950K +4 more)	Single nucleotide variant (missense 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 condition +3 more	GConflicting classifications of pathogenicity
Select item 163897	NM_001384474.1(LOXHD1):c.5400-3C>T	LOXHD1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 47943	NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=)	LOXHD1	Single nucleotide variant (synonymous variant)	LOXHD1-related condition +3 more	GConflicting classifications of pathogenicity
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 47940	NM_001384474.1(LOXHD1):c.4714C>A (p.Arg1572=)	LOXHD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 47937	NM_001384474.1(LOXHD1):c.4148C>T (p.Thr1383Met)	LOXHD1 (T1383M +2 more)	Single nucleotide variant (missense variant)	LOXHD1-related condition +3 more	GBenign/Likely benign
Select item 804993	NM_001384474.1(LOXHD1):c.3287_3295del (p.Thr1096_Asn1098del)	LOXHD1	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 226714	NM_001384474.1(LOXHD1):c.2816AGA[3] (p.Lys942del)	LOXHD1 (K942del)	Microsatellite (inframe_deletion)	Autosomal recessive nonsyndromic hearing loss 77 +2 more	GBenign/Likely benign
Select item 995176	NM_001384474.1(LOXHD1):c.2557C>T (p.Arg853Cys)	LOXHD1 (R853C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 163920	NM_001384474.1(LOXHD1):c.2264G>T (p.Gly755Val)	LOXHD1 (G755V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 47924	NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr)	LOXHD1 (D694Y)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 178401	NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn)	LOXHD1 (D649N)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 47923	NM_001384474.1(LOXHD1):c.1894G>T (p.Gly632Cys)	LOXHD1 (G632C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 47922	NM_001384474.1(LOXHD1):c.1876G>T (p.Gly626Cys)	LOXHD1 (G626C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 811044	NM_001384474.1(LOXHD1):c.1605A>G (p.Ile535Met)	LOXHD1 (I535M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 163930	NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)	LOXHD1 (R524C)	Single nucleotide variant (missense variant)	LOXHD1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 178615	NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=)	LOXHD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 163939	NM_001384474.1(LOXHD1):c.287G>A (p.Arg96Gln)	LOXHD1 (R96Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 47932	NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys)	LOXHD1 (M1K)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign

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Items: 23