"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 43485	NC_000007.14:g.107660670A>T	SLC26A4, SLC26A4-AS1	Single nucleotide variant	Pendred syndrome +2 more	GUncertain significance
Select item 505771	NC_000007.14:g.107660702G>A	SLC26A4, SLC26A4-AS1	Single nucleotide variant	not specified	GUncertain significance
Select item 1120095	NC_000007.14:g.107660715C>T	SLC26A4, SLC26A4-AS1	Single nucleotide variant	not specified	GUncertain significance
Select item 358492	NC_000007.14:g.107660720C>T	SLC26A4, SLC26A4-AS1	Single nucleotide variant	not provided +3 more	GUncertain significance
Select item 4838	NC_000007.14:g.107660756T>C	SLC26A4, SLC26A4-AS1	Single nucleotide variant	Pendred syndrome	GUncertain significance FDA Recognized database
Select item 43488	NC_000007.14:g.107660793C>T	SLC26A4, SLC26A4-AS1	Single nucleotide variant	not specified +1 more	GConflicting classifications of pathogenicity
Select item 43487	NM_000441.2(SLC26A4):c.-66C>G	SLC26A4, SLC26A4-AS1	Single nucleotide variant	not specified +3 more	GBenign/Likely benign
Select item 666917	NC_000007.14:g.107660799A>G	SLC26A4, SLC26A4-AS1	Single nucleotide variant	not specified +2 more	GConflicting classifications of pathogenicity
Select item 165245	NM_000441.2(SLC26A4):c.-4+5G>A	SLC26A4, SLC26A4-AS1	Single nucleotide variant (intron variant)	Rare genetic deafness +2 more	GConflicting classifications of pathogenicity
Select item 43486	NM_000441.2(SLC26A4):c.-3-2A>G	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 43553	NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr)	SLC26A4, SLC26A4-AS1 (M1T)	Single nucleotide variant (non-coding transcript variant +2 more)	Pendred syndrome +4 more	GPathogenic
Select item 43515	NM_000441.2(SLC26A4):c.15C>A (p.Gly5=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GConflicting classifications of pathogenicity
Select item 43524	NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val)	SLC26A4, SLC26A4-AS1 (G6V)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GConflicting classifications of pathogenicity
Select item 43550	NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr)	SLC26A4, SLC26A4-AS1 (P10T)	Single nucleotide variant	SLC26A4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 505477	NM_000441.2(SLC26A4):c.61A>G (p.Met21Val)	SLC26A4, SLC26A4-AS1 (M21V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 43563	NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter)	SLC26A4, SLC26A4-AS1 (S23*)	Single nucleotide variant (non-coding transcript variant +1 more)	Rare genetic deafness +2 more	GPathogenic/Likely pathogenic
Select item 517424	NM_000441.2(SLC26A4):c.75G>C (p.Pro25=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 43569	NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter)	SLC26A4, SLC26A4-AS1 (E29*)	Single nucleotide variant (non-coding transcript variant +1 more)	Pendred syndrome +2 more	GPathogenic/Likely pathogenic
Select item 4839	NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)	SLC26A4, SLC26A4-AS1 (E29Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Rare genetic deafness +4 more	GPathogenic/Likely pathogenic
Select item 517167	NM_000441.2(SLC26A4):c.90C>G (p.Leu30=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 504923	NM_000441.2(SLC26A4):c.128G>A (p.Arg43His)	SLC26A4, SLC26A4-AS1 (R43H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GUncertain significance
Select item 227949	NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)	SLC26A4, SLC26A4-AS1 (S49R)	Single nucleotide variant (missense variant +1 more)	Pendred syndrome	GLikely benign FDA Recognized database

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Items: 22