C2746083[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 47951	NM_001384474.1(LOXHD1):c.6584G>A (p.Arg2195His)	LOXHD1 (R2133H +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 47949	NM_001384474.1(LOXHD1):c.6293C>T (p.Ala2098Val)	LOXHD1 (A2036V +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 682720	NM_001384474.1(LOXHD1):c.5878+60A>G	LOXHD1	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 77 +1 more	GBenign
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 326837	NM_001384474.1(LOXHD1):c.4978A>G (p.Lys1660Glu)	LOXHD1 (K1660E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 682778	NM_001384474.1(LOXHD1):c.4740+21G>A	LOXHD1	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 77 +1 more	GBenign
Select item 1199381	NM_001384474.1(LOXHD1):c.4685G>A (p.Arg1562His)	LOXHD1 (R1562H +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 262521	NM_001384474.1(LOXHD1):c.4531-19C>T	LOXHD1	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 77 +2 more	GBenign/Likely benign
Select item 1184656	NM_001384474.1(LOXHD1):c.4531-120G>A	LOXHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1184657	NM_001384474.1(LOXHD1):c.4530+25C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1184658	NM_001384474.1(LOXHD1):c.4096-59A>G	LOXHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 47934	NM_001384474.1(LOXHD1):c.3463A>G (p.Arg1155Gly)	LOXHD1 (R1155G +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 77 +2 more	GBenign
Select item 47928	NM_001384474.1(LOXHD1):c.2473G>A (p.Val825Met)	LOXHD1 (V825M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 47926	NM_001384474.1(LOXHD1):c.2175C>T (p.Asn725=)	LOXHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 77 +2 more	GBenign/Likely benign
Select item 1184659	NM_001384474.1(LOXHD1):c.2048-102A>G	LOXHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 179067	NM_001384474.1(LOXHD1):c.1844G>A (p.Arg615Gln)	LOXHD1 (R615Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1199288	NM_001384474.1(LOXHD1):c.1666C>G (p.His556Asp)	LOXHD1 (H556D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 1184660	NM_001384474.1(LOXHD1):c.1654+69C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1210426	NM_001384474.1(LOXHD1):c.1286del (p.Leu429fs)	LOXHD1 (L429fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1184661	NM_001384474.1(LOXHD1):c.1135-70C>A	LOXHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 47932	NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys)	LOXHD1 (M1K)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 77 +2 more	GBenign/Likely benign
Select item 1184666	NM_001384474.1(LOXHD1):c.-102G>A	LOXHD1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign

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Items: 26