"Fulgent Genetics, Fulgent Genetics"[submitter] AND "KIAA1549"[gene] - ClinVar - NCBI

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

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1658623	NM_001164665.2(KIAA1549):c.5577C>T (p.Asp1859=)	KIAA1549	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 86 +1 more	GLikely benign
Select item 1165929	NM_001164665.2(KIAA1549):c.4930-14A>G	KIAA1549	Single nucleotide variant (intron variant)	Retinitis pigmentosa 86 +1 more	GBenign/Likely benign
Select item 712686	NM_001164665.2(KIAA1549):c.4716C>T (p.Ile1572=)	KIAA1549	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 86 +1 more	GBenign/Likely benign
Select item 1116794	NM_001164665.2(KIAA1549):c.4214T>C (p.Val1405Ala)	KIAA1549 (V1405A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 86 +2 more	GConflicting classifications of pathogenicity
Select item 1152581	NM_001164665.2(KIAA1549):c.4125G>A (p.Ala1375=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 834277	NM_001164665.2(KIAA1549):c.3146T>A (p.Val1049Glu)	KIAA1549 (V1049E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 86 +1 more	GUncertain significance
Select item 712687	NM_001164665.2(KIAA1549):c.3052A>T (p.Ile1018Leu)	KIAA1549 (I1018L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 86 +1 more	GBenign/Likely benign
Select item 1114579	NM_001164665.2(KIAA1549):c.1925C>T (p.Ser642Leu)	KIAA1549 (S642L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1361373	NM_001164665.2(KIAA1549):c.1070C>A (p.Thr357Lys)	KIAA1549 (T357K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 725834	NM_001164665.2(KIAA1549):c.958G>A (p.Asp320Asn)	KIAA1549 (D320N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 86 +1 more	GBenign/Likely benign
Select item 1037521	NM_001164665.2(KIAA1549):c.116G>A (p.Arg39His)	KIAA1549 (R39H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance