"Illumina Laboratory Services, Illumina"[submitter] AND "SIX1"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 313441	NM_005982.4(SIX1):c.*1571T>C	SIX1	Single nucleotide variant (3 prime UTR variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GUncertain significance
Select item 313442	NM_005982.4(SIX1):c.*1496C>T	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GBenign
Select item 313443	NM_005982.4(SIX1):c.*1268AT[1]	SIX1	Microsatellite (3 prime UTR variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GUncertain significance
Select item 882088	NM_005982.4(SIX1):c.*1251A>G	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 882089	NM_005982.4(SIX1):c.*1232T>C	SIX1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 882090	NM_005982.4(SIX1):c.*1080A>T	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 313444	NM_005982.4(SIX1):c.*1079T>A	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GBenign/Likely benign
Select item 313445	NM_005982.4(SIX1):c.*1044G>T	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GBenign/Likely benign
Select item 313446	NM_005982.4(SIX1):c.*1008del	SIX1	Deletion (3 prime UTR variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GLikely benign
Select item 313447	NM_005982.4(SIX1):c.*1001T>C	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 313448	NM_005982.4(SIX1):c.*883CTAGTTT[1]	SIX1	Microsatellite (3 prime UTR variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GLikely benign
Select item 883235	NM_005982.4(SIX1):c.*858C>T	SIX1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 313449	NM_005982.4(SIX1):c.*767A>T	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GLikely benign
Select item 884035	NM_005982.4(SIX1):c.*766T>A	SIX1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 313451	NM_005982.4(SIX1):c.765_766del	SIX1	Deletion (3 prime UTR variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GUncertain significance
Select item 313450	NM_005982.4(SIX1):c.*766del	SIX1	Deletion (3 prime UTR variant)	Branchiootorenal Spectrum Disorders +1 more	GBenign
Select item 313452	NM_005982.4(SIX1):c.*755T>G	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 313453	NM_005982.4(SIX1):c.*736T>G	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 880739	NM_005982.4(SIX1):c.*688C>T	SIX1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 313454	NM_005982.4(SIX1):c.*602G>C	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GBenign
Select item 313455	NM_005982.4(SIX1):c.578_581del	SIX1	Deletion (3 prime UTR variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GLikely benign
Select item 313456	NM_005982.4(SIX1):c.*443A>G	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GBenign/Likely benign
Select item 313457	NM_005982.4(SIX1):c.*404A>G	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GBenign
Select item 313458	NM_005982.4(SIX1):c.*371A>G	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 313459	NM_005982.4(SIX1):c.*334C>G	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GBenign
Select item 313460	NM_005982.4(SIX1):c.*297T>G	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +2 more	GBenign/Likely benign
Select item 313461	NM_005982.4(SIX1):c.*268CAAA[2]	SIX1	Microsatellite (3 prime UTR variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GUncertain significance
Select item 883288	NM_005982.4(SIX1):c.*266C>A	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 313462	NM_005982.4(SIX1):c.*265del	SIX1	Deletion (3 prime UTR variant)	Branchiootorenal Spectrum Disorders +2 more	GBenign
Select item 883289	NM_005982.4(SIX1):c.*249A>G	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 313463	NM_005982.4(SIX1):c.*161C>A	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 883290	NM_005982.4(SIX1):c.*140C>T	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 313464	NM_005982.4(SIX1):c.822C>T (p.Pro274=)	SIX1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 23 +2 more	GUncertain significance
Select item 884094	NM_005982.4(SIX1):c.746C>T (p.Pro249Leu)	SIX1 (P249L)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +3 more	GConflicting classifications of pathogenicity
Select item 884095	NM_005982.4(SIX1):c.681C>A (p.Asp227Glu)	SIX1 (D227E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 633689	NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr)	SIX1 (D227Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 313465	NM_005982.4(SIX1):c.578A>T (p.Asn193Ile)	SIX1 (N193I)	Single nucleotide variant (missense variant)	SIX1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 880804	NM_005982.4(SIX1):c.495C>T (p.Thr165=)	MIR9718, SIX1	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 497460	NM_005982.4(SIX1):c.330G>A (p.Arg110=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +3 more	GConflicting classifications of pathogenicity
Select item 313466	NM_005982.4(SIX1):c.180C>G (p.Arg60=)	SIX1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 227075	NM_005982.4(SIX1):c.162G>A (p.Ala54=)	SIX1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 313467	NM_005982.4(SIX1):c.-14G>T	SIX1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GBenign/Likely benign
Select item 882199	NM_005982.4(SIX1):c.-24C>T	SIX1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GBenign/Likely benign
Select item 313468	NM_005982.4(SIX1):c.-84C>G	SIX1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 313469	NM_005982.4(SIX1):c.-121C>G	SIX1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GBenign
Select item 313470	NM_005982.4(SIX1):c.-137C>T	SIX1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GBenign/Likely benign
Select item 313471	NM_005982.4(SIX1):c.-161G>C	SIX1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 313472	NM_005982.4(SIX1):c.-184A>C	SIX1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GBenign/Likely benign
Select item 313473	NM_005982.4(SIX1):c.-185T>C	SIX1	Single nucleotide variant (5 prime UTR variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 884151	NM_005982.4(SIX1):c.-213C>T	LOC130055766, SIX1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 313474	NM_005982.4(SIX1):c.-213C>G	LOC130055766, SIX1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 369075	NM_005982.4(SIX1):c.-255G>T	LOC130055766, SIX1	Single nucleotide variant (5 prime UTR variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GLikely benign

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Items: 52