"PreventionGenetics, part of Exact Sciences"[submitter] AND "KIAA0753" - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 730616	NM_014804.3(KIAA0753):c.2686C>T (p.Gln896Ter)	KIAA0753 (Q896* +1 more)	Single nucleotide variant (nonsense +1 more)	KIAA0753-related disorder +1 more	GLikely benign
Select item 750031	NM_014804.3(KIAA0753):c.2676A>C (p.Pro892=)	KIAA0753	Single nucleotide variant (synonymous variant +1 more)	KIAA0753-related disorder +1 more	GLikely benign
Select item 1627731	NM_014804.3(KIAA0753):c.2662C>G (p.Pro888Ala)	KIAA0753 (P589A +1 more)	Single nucleotide variant (missense variant +1 more)	KIAA0753-related disorder +1 more	GBenign/Likely benign
Select item 738501	NM_014804.3(KIAA0753):c.2657G>A (p.Arg886Gln)	KIAA0753 (R587Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2176978	NM_014804.3(KIAA0753):c.2359-5dup	KIAA0753	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3037312	NM_014804.3(KIAA0753):c.1698A>C (p.Pro566=)	KIAA0753	Single nucleotide variant (synonymous variant +1 more)	KIAA0753-related disorder	GLikely benign
Select item 1614738	NM_014804.3(KIAA0753):c.1553G>A (p.Arg518His)	KIAA0753 (R219H +1 more)	Single nucleotide variant (missense variant +1 more)	KIAA0753-related disorder +1 more	GLikely benign
Select item 1258749	NM_014804.3(KIAA0753):c.1334C>T (p.Thr445Met)	KIAA0753 (T146M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 799148	NM_014804.3(KIAA0753):c.1200G>A (p.Lys400=)	KIAA0753	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 445629	NM_014804.3(KIAA0753):c.754C>T (p.Arg252Cys)	KIAA0753 (R252C)	Single nucleotide variant (5 prime UTR variant +2 more)	KIAA0753-related disorder +1 more	GBenign/Likely benign
Select item 768826	NM_014804.3(KIAA0753):c.655G>A (p.Val219Ile)	KIAA0753 (V219I)	Single nucleotide variant (5 prime UTR variant +2 more)	KIAA0753-related disorder +1 more	GBenign
Select item 1624361	NM_014804.3(KIAA0753):c.622A>G (p.Lys208Glu)	KIAA0753 (K208E)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GLikely benign
Select item 768827	NM_014804.3(KIAA0753):c.476A>C (p.His159Pro)	KIAA0753 (H159P)	Single nucleotide variant (5 prime UTR variant +2 more)	KIAA0753-related disorder +1 more	GBenign
Select item 713011	NM_014804.3(KIAA0753):c.236T>C (p.Val79Ala)	KIAA0753 (V79A)	Single nucleotide variant (5 prime UTR variant +2 more)	KIAA0753-related disorder +4 more	GLikely benign