C5436771[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1365125	NM_001046.3(SLC12A2):c.41G>T (p.Gly14Val)	LOC129994526, SLC12A2 (G14V)	Single nucleotide variant (missense variant +1 more)	Kilquist syndrome +4 more	GUncertain significance
Select item 1659746	NM_001046.3(SLC12A2):c.102G>A (p.Leu34=)	LOC129994526, SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1510335	NM_001046.3(SLC12A2):c.235A>C (p.Ser79Arg)	SLC12A2, LOC129994526 (S79R)	Single nucleotide variant (missense variant +1 more)	Kilquist syndrome +4 more	GUncertain significance
Select item 1532036	NM_001046.3(SLC12A2):c.261C>T (p.Ser87=)	SLC12A2, LOC129994526	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1440806	NM_001046.3(SLC12A2):c.288GGC[11] (p.Ala104_Ala107dup)	LOC129994526, SLC12A2	Microsatellite (inframe_insertion +1 more)	Kilquist syndrome +3 more	GUncertain significance
Select item 1385353	NM_001046.3(SLC12A2):c.288GGC[10] (p.Ala105_Ala107dup)	LOC129994526, SLC12A2	Microsatellite (inframe_insertion +1 more)	not provided +3 more	GUncertain significance
Select item 1660246	NM_001046.3(SLC12A2):c.495C>T (p.Asp165=)	SLC12A2	Single nucleotide variant (synonymous variant +1 more)	Kilquist syndrome +3 more	GBenign/Likely benign
Select item 1600401	NM_001046.3(SLC12A2):c.524G>C (p.Gly175Ala)	SLC12A2 (G175A)	Single nucleotide variant (missense variant +1 more)	Kilquist syndrome +3 more	GBenign/Likely benign
Select item 1385672	NM_001046.3(SLC12A2):c.788A>C (p.Glu263Ala)	SLC12A2 (E263A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1652869	NM_001046.3(SLC12A2):c.876+17_876+18del	SLC12A2	Deletion (intron variant)	Kilquist syndrome +3 more	GBenign/Likely benign
Select item 1530460	NM_001046.3(SLC12A2):c.877-16C>G	SLC12A2	Single nucleotide variant (intron variant)	Kilquist syndrome +3 more	GLikely benign
Select item 1505967	NM_001046.3(SLC12A2):c.881G>A (p.Arg294His)	SLC12A2 (R294H)	Single nucleotide variant (missense variant +1 more)	Kilquist syndrome +3 more	GUncertain significance
Select item 1335592	NM_001046.3(SLC12A2):c.953-7C>T	SLC12A2	Single nucleotide variant (intron variant)	Kilquist syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1476334	NM_001046.3(SLC12A2):c.1127A>G (p.Asn376Ser)	SLC12A2 (N376S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1611070	NM_001046.3(SLC12A2):c.1128C>T (p.Asn376=)	SLC12A2	Single nucleotide variant (synonymous variant +1 more)	Kilquist syndrome +3 more	GLikely benign
Select item 1632597	NM_001046.3(SLC12A2):c.1773+15T>C	SLC12A2	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1424361	NM_001046.3(SLC12A2):c.1941A>G (p.Lys647=)	SLC12A2	Single nucleotide variant (synonymous variant +1 more)	Hearing loss, autosomal dominant 78 +3 more	GLikely benign
Select item 1614908	NM_001046.3(SLC12A2):c.2005+9T>C	SLC12A2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1660998	NM_001046.3(SLC12A2):c.2107+11A>G	SLC12A2	Single nucleotide variant (intron variant)	Kilquist syndrome +3 more	GBenign/Likely benign
Select item 1473763	NM_001046.3(SLC12A2):c.2210T>A (p.Leu737Gln)	SLC12A2 (L737Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1401954	NM_001046.3(SLC12A2):c.2293C>G (p.Leu765Val)	SLC12A2 (L765V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1533201	NM_001046.3(SLC12A2):c.2322A>C (p.Ser774=)	SLC12A2	Single nucleotide variant (synonymous variant +1 more)	Kilquist syndrome +3 more	GBenign/Likely benign
Select item 1538685	NM_001046.3(SLC12A2):c.2475+11A>G	SLC12A2	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1666075	NM_001046.3(SLC12A2):c.2493C>A (p.Ala831=)	SLC12A2	Single nucleotide variant (synonymous variant +1 more)	Hearing loss, autosomal dominant 78 +3 more	GLikely benign
Select item 1355224	NM_001046.3(SLC12A2):c.2511C>T (p.Ile837=)	SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 1628764	NM_001046.3(SLC12A2):c.2748A>T (p.Gly916=)	SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1445687	NM_001046.3(SLC12A2):c.2848G>A (p.Val950Met)	SLC12A2 (V950M)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1645686	NM_001046.3(SLC12A2):c.3100+13A>T	SLC12A2	Single nucleotide variant (intron variant)	Kilquist syndrome +3 more	GBenign/Likely benign
Select item 1653696	NM_001046.3(SLC12A2):c.3100+20T>A	SLC12A2	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1596561	NM_001046.3(SLC12A2):c.3468A>G (p.Leu1156=)	SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1373721	NM_001046.3(SLC12A2):c.3622C>G (p.Leu1208Val)	SLC12A2 (L1192V +1 more)	Single nucleotide variant (missense variant +1 more)	Kilquist syndrome +3 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 31