C2746083[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 227530	NM_001384474.1(LOXHD1):c.6378G>A (p.Lys2126=)	LOXHD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 178391	NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=)	LOXHD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 286754	NM_001384474.1(LOXHD1):c.6071C>T (p.Thr2024Met)	LOXHD1 (T1962M +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 47948	NM_001384474.1(LOXHD1):c.6050-15C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 227529	NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp)	LOXHD1 (R1800W +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 228834	NM_001384474.1(LOXHD1):c.5458A>T (p.Thr1820Ser)	LOXHD1 (T1758S +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 163897	NM_001384474.1(LOXHD1):c.5400-3C>T	LOXHD1	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 77 +2 more	GConflicting classifications of pathogenicity
Select item 228831	NM_001384474.1(LOXHD1):c.5387A>G (p.Lys1796Arg)	LOXHD1 (K1734R +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77 +4 more	GUncertain significance
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 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 554146	NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter)	LOXHD1 (R1668* +2 more)	Single nucleotide variant (nonsense)	Rare genetic deafness +2 more	GPathogenic/Likely pathogenic
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 178612	NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu)	LOXHD1 (G1509E +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 228826	NM_001384474.1(LOXHD1):c.4256C>T (p.Thr1419Ile)	LOXHD1 (T1419I +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 554791	NM_001384474.1(LOXHD1):c.4096-1G>C	LOXHD1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 228825	NM_001384474.1(LOXHD1):c.4082G>A (p.Arg1361His)	LOXHD1 (R1361H +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77 +2 more	GUncertain significance
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 227518	NM_001384474.1(LOXHD1):c.3561G>A (p.Lys1187=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 556174	NM_001384474.1(LOXHD1):c.3185C>T (p.Ser1062Leu)	LOXHD1 (S1062L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 163917	NM_001384474.1(LOXHD1):c.3162G>A (p.Thr1054=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 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 47929	NM_001384474.1(LOXHD1):c.2251C>T (p.Arg751Trp)	LOXHD1 (R751W)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 47924	NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr)	LOXHD1 (D694Y)	Single nucleotide variant (missense variant)	not provided +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)	Autosomal recessive nonsyndromic hearing loss 77 +2 more	GConflicting classifications of pathogenicity
Select item 194439	NM_001384474.1(LOXHD1):c.1843C>T (p.Arg615Trp)	LOXHD1 (R615W)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77 +1 more	GUncertain significance
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 178994	NM_001384474.1(LOXHD1):c.1810-6C>A	LOXHD1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 47920	NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala)	LOXHD1 (V581A)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 47918	NM_001384474.1(LOXHD1):c.1571G>A (p.Arg524His)	LOXHD1 (R524H)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
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 163931	NM_001384474.1(LOXHD1):c.1476G>T (p.Trp492Cys)	LOXHD1 (W492C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 178403	NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His)	LOXHD1 (R343H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 163936	NM_001384474.1(LOXHD1):c.811C>T (p.Arg271Cys)	LOXHD1 (R271C)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 178404	NM_001384474.1(LOXHD1):c.611-15T>C	LOXHD1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 291140	NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter)	LOXHD1 (K148*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 47932	NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys)	LOXHD1 (M1K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign

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Items: 41