C1384666[trait identifier] AND "Center for Statistical Genetics, Colum - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 48487	NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)	LOC122152296, USH2A (S841Y)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 284411	NM_206933.4(USH2A):c.908G>A (p.Arg303His)	USH2A (R303H)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 590932	NM_001145319.2(PLS1):c.1087C>T (p.Leu363Phe)	PLS1 (L363F)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing impairment +2 more	GConflicting classifications of pathogenicity
Select item 590928	NM_005908.4(MANBA):c.2158-2A>G	MANBA	Single nucleotide variant (splice acceptor variant)	Beta-D-mannosidosis	GPathogenic
Select item 590937	NM_005921.2(MAP3K1):c.548G>A (p.Arg183Gln)	MAP3K1 (R183Q)	Single nucleotide variant (missense variant)	46,XY sex reversal 6	GLikely benign
Select item 590929	NM_000260.4(MYO7A):c.4107G>T (p.Gln1369His)	MYO7A (Q1369H +1 more)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 17002	NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	GJB2 (W24*)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17004	NM_004004.6(GJB2):c.35del (p.Gly12fs)	GJB2 (G12fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 590936	NM_014918.5(CHSY1):c.779G>A (p.Arg260Gln)	CHSY1 (R260Q)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 590930	NM_173477.5(USH1G):c.854dup (p.Ala286fs)	USH1G (A183fs +1 more)	Duplication (frameshift variant)	Hearing impairment	GPathogenic/Likely pathogenic
Select item 590931	NM_173477.5(USH1G):c.314C>T (p.Ala105Val)	USH1G (A105V +1 more)	Single nucleotide variant (missense variant)	Hearing impairment	GLikely pathogenic
Select item 590933	NM_002850.4(PTPRS):c.3343G>A (p.Ala1115Thr)	PTPRS (A1115T +3 more)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 590934	NM_002850.4(PTPRS):c.2552G>T (p.Arg851Leu)	PTPRS (R851L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 590935	NM_001200.4(BMP2):c.178A>C (p.Met60Leu)	BMP2 (M60L)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 590927	NM_002473.6(MYH9):c.3682G>A (p.Glu1228Lys)	MYH9 (E1228K)	Single nucleotide variant (missense variant)	not provided	GLikely benign