"PreventionGenetics, part of Exact Sciences"[submitter] AND "KIAA0825" - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3038019	NM_001145678.3(KIAA0825):c.3620-8A>G	KIAA0825	Single nucleotide variant (intron variant)	KIAA0825-related disorder	GBenign
Select item 3059786	NM_001145678.3(KIAA0825):c.3530C>T (p.Thr1177Met)	KIAA0825 (T1177M +1 more)	Single nucleotide variant (missense variant +1 more)	KIAA0825-related disorder	GBenign
Select item 3057167	NM_001145678.3(KIAA0825):c.3516C>A (p.Ile1172=)	KIAA0825	Single nucleotide variant (synonymous variant +1 more)	KIAA0825-related disorder	GBenign
Select item 3035003	NM_001145678.3(KIAA0825):c.3452A>G (p.Asn1151Ser)	KIAA0825 (N1151S +1 more)	Single nucleotide variant (missense variant +1 more)	KIAA0825-related disorder	GBenign
Select item 3031987	NM_001145678.3(KIAA0825):c.3371T>G (p.Ile1124Arg)	KIAA0825 (I1124R +1 more)	Single nucleotide variant (missense variant +1 more)	KIAA0825-related disorder	GLikely benign
Select item 1300065	NM_001145678.3(KIAA0825):c.3117T>C (p.Ser1039=)	KIAA0825	Single nucleotide variant (synonymous variant +1 more)	KIAA0825-related disorder +1 more	GBenign
Select item 3041143	NM_001145678.3(KIAA0825):c.3013T>A (p.Phe1005Ile)	KIAA0825 (F1005I +1 more)	Single nucleotide variant (missense variant +1 more)	KIAA0825-related disorder	GLikely benign
Select item 3033773	NM_001145678.3(KIAA0825):c.2806G>T (p.Val936Phe)	KIAA0825 (V936F +1 more)	Single nucleotide variant (missense variant +1 more)	KIAA0825-related disorder	GUncertain significance
Select item 1300066	NM_001145678.3(KIAA0825):c.2551G>A (p.Ala851Thr)	KIAA0825 (A851T +1 more)	Single nucleotide variant (missense variant +1 more)	Polydactyly, postaxial, type a10 +1 more	GBenign
Select item 3038502	NM_001145678.3(KIAA0825):c.2508C>T (p.Ser836=)	KIAA0825	Single nucleotide variant (synonymous variant +1 more)	KIAA0825-related disorder	GBenign
Select item 3045394	NM_001145678.3(KIAA0825):c.2203ACA[1] (p.Thr736del)	KIAA0825 (T736del)	Microsatellite (inframe deletion +1 more)	KIAA0825-related disorder	GLikely benign
Select item 3048701	NM_001145678.3(KIAA0825):c.2196T>A (p.Asn732Lys)	KIAA0825 (N732K)	Single nucleotide variant (missense variant +1 more)	KIAA0825-related disorder	GBenign
Select item 3055166	NM_001145678.3(KIAA0825):c.2086A>C (p.Ile696Leu)	KIAA0825 (I696L)	Single nucleotide variant (missense variant +1 more)	KIAA0825-related disorder	GLikely benign
Select item 3037527	NM_001145678.3(KIAA0825):c.1977A>G (p.Leu659=)	KIAA0825, LOC126807453	Single nucleotide variant (synonymous variant +1 more)	KIAA0825-related disorder	GBenign
Select item 3053138	NM_001145678.3(KIAA0825):c.1833T>C (p.Ala611=)	KIAA0825	Single nucleotide variant (synonymous variant +1 more)	KIAA0825-related disorder	GBenign
Select item 3037156	NM_001145678.3(KIAA0825):c.1692T>C (p.Tyr564=)	KIAA0825	Single nucleotide variant (synonymous variant +1 more)	KIAA0825-related disorder	GBenign
Select item 2212402	NM_001145678.3(KIAA0825):c.1627C>T (p.Pro543Ser)	KIAA0825 (P543S)	Single nucleotide variant (missense variant +1 more)	KIAA0825-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3048643	NM_001145678.3(KIAA0825):c.1286C>T (p.Ala429Val)	KIAA0825 (A429V)	Single nucleotide variant (missense variant +1 more)	KIAA0825-related disorder	GUncertain significance
Select item 3042151	NM_001145678.3(KIAA0825):c.1227G>A (p.Glu409=)	KIAA0825	Single nucleotide variant (synonymous variant +1 more)	KIAA0825-related disorder	GBenign
Select item 3056214	NM_001145678.3(KIAA0825):c.1158G>A (p.Glu386=)	KIAA0825	Single nucleotide variant (synonymous variant +1 more)	KIAA0825-related disorder	GBenign
Select item 3039459	NM_001145678.3(KIAA0825):c.1132+4A>G	KIAA0825	Single nucleotide variant (intron variant)	KIAA0825-related disorder	GBenign
Select item 3057226	NM_001145678.3(KIAA0825):c.1038G>A (p.Ser346=)	KIAA0825	Single nucleotide variant (synonymous variant +1 more)	KIAA0825-related disorder	GBenign
Select item 3050864	NM_001145678.3(KIAA0825):c.969G>T (p.Leu323Phe)	KIAA0825 (L286F +1 more)	Single nucleotide variant (missense variant +1 more)	KIAA0825-related disorder	GBenign
Select item 3056746	NM_001145678.3(KIAA0825):c.136A>G (p.Lys46Glu)	KIAA0825 (K46E +1 more)	Single nucleotide variant (missense variant +1 more)	KIAA0825-related disorder	GBenign

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Items: 24