KIAA0753[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 1259547	NM_014804.3(KIAA0753):c.*21A>G	KIAA0753	Single nucleotide variant (3 prime UTR variant +1 more)	Joubert syndrome 38 +3 more	GBenign
Select item 1924626	NM_014804.3(KIAA0753):c.2868T>C (p.Ala956=)	KIAA0753	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2399775	NM_014804.3(KIAA0753):c.2863G>C (p.Glu955Gln)	KIAA0753 (E955Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468414	NM_014804.3(KIAA0753):c.2839C>G (p.Gln947Glu)	KIAA0753 (Q648E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2188771	NM_014804.3(KIAA0753):c.2838T>A (p.Leu946=)	KIAA0753	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2110201	NM_014804.3(KIAA0753):c.2818G>A (p.Gly940Ser)	KIAA0753 (G940S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1934478	NM_014804.3(KIAA0753):c.2789T>A (p.Phe930Tyr)	KIAA0753 (F930Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1181856	NM_014804.3(KIAA0753):c.2786+222_2786+224del	KIAA0753	Microsatellite (intron variant)	not provided	GBenign
Select item 1239632	NM_014804.3(KIAA0753):c.2786+43A>G	KIAA0753	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248546	NM_014804.3(KIAA0753):c.2786+20C>T	KIAA0753	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2995783	NM_014804.3(KIAA0753):c.2786+17G>A	KIAA0753	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1607316	NM_014804.3(KIAA0753):c.2786+15dup	KIAA0753	Duplication (intron variant)	not provided	GLikely benign
Select item 1549776	NM_014804.3(KIAA0753):c.2786+7A>G	KIAA0753	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1524184	NM_014804.3(KIAA0753):c.2786+3C>T	KIAA0753	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3339428	NM_014804.3(KIAA0753):c.2786+1G>A	KIAA0753	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 2647313	NM_014804.3(KIAA0753):c.2781T>A (p.Ala927=)	KIAA0753	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1667710	NM_014804.3(KIAA0753):c.2778A>G (p.Ile926Met)	KIAA0753 (I627M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2907719	NM_014804.3(KIAA0753):c.2773C>T (p.Leu925=)	KIAA0753	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1915210	NM_014804.3(KIAA0753):c.2769G>A (p.Pro923=)	KIAA0753	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 377061	NM_014804.3(KIAA0753):c.2768C>T (p.Pro923Leu)	KIAA0753 (P923L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1309330	NM_014804.3(KIAA0753):c.2767C>T (p.Pro923Ser)	KIAA0753 (P624S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2183232	NM_014804.3(KIAA0753):c.2765A>G (p.Asn922Ser)	KIAA0753 (N623S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2413979	NM_014804.3(KIAA0753):c.2756G>C (p.Gly919Ala)	KIAA0753 (G620A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1909423	NM_014804.3(KIAA0753):c.2752G>A (p.Val918Ile)	KIAA0753 (V619I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2920287	NM_014804.3(KIAA0753):c.2751T>C (p.Ala917=)	KIAA0753	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3114121	NM_014804.3(KIAA0753):c.2744A>C (p.His915Pro)	KIAA0753 (H616P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 743758	NM_014804.3(KIAA0753):c.2742T>G (p.Ser914=)	KIAA0753	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1907003	NM_014804.3(KIAA0753):c.2740T>G (p.Ser914Ala)	KIAA0753 (S914A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1352181	NM_014804.3(KIAA0753):c.2732G>A (p.Arg911Gln)	KIAA0753 (R612Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1921441	NM_014804.3(KIAA0753):c.2731C>T (p.Arg911Trp)	KIAA0753 (R612W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1715949	NM_014804.3(KIAA0753):c.2718T>A (p.Phe906Leu)	KIAA0753 (F607L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1364334	NM_014804.3(KIAA0753):c.2713C>T (p.Arg905Cys)	KIAA0753 (R606C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 736332	NM_014804.3(KIAA0753):c.2709T>C (p.Cys903=)	KIAA0753	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1905466	NM_014804.3(KIAA0753):c.2697C>T (p.Ile899=)	KIAA0753	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1408128	NM_014804.3(KIAA0753):c.2686_2687inv (p.Gln896Trp)	KIAA0753 (Q597W +1 more)	Inversion (missense variant +1 more)	not provided	GUncertain significance
Select item 1236419	NM_014804.3(KIAA0753):c.2687A>G (p.Gln896Arg)	KIAA0753 (Q597R +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 38 +3 more	GBenign
Select item 730616	NM_014804.3(KIAA0753):c.2686C>T (p.Gln896Ter)	KIAA0753 (Q896* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 1310620	NM_014804.3(KIAA0753):c.2678C>T (p.Pro893Leu)	KIAA0753 (P594L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 747369	NM_014804.3(KIAA0753):c.2678C>G (p.Pro893Arg)	KIAA0753 (P594R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 750031	NM_014804.3(KIAA0753):c.2676A>C (p.Pro892=)	KIAA0753	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3377254	NM_014804.3(KIAA0753):c.2675del (p.Pro892fs)	KIAA0753 (P593fs +1 more)	Deletion (frameshift variant +1 more)	Short-rib thoracic dysplasia 21 without polydactyly	GLikely pathogenic
Select item 1627731	NM_014804.3(KIAA0753):c.2662C>G (p.Pro888Ala)	KIAA0753 (P589A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3114120	NM_014804.3(KIAA0753):c.2660C>T (p.Ala887Val)	KIAA0753 (A588V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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	GLikely benign
Select item 792402	NM_014804.3(KIAA0753):c.2656C>A (p.Arg886=)	KIAA0753	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 620530	NM_014804.3(KIAA0753):c.2656C>T (p.Arg886Ter)	KIAA0753 (R886* +1 more)	Single nucleotide variant (nonsense +1 more)	KIAA0753-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 1398814	NM_014804.3(KIAA0753):c.2651A>G (p.Glu884Gly)	KIAA0753 (E585G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1487901	NM_014804.3(KIAA0753):c.2648A>C (p.Lys883Thr)	KIAA0753 (K584T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1463350	NM_014804.3(KIAA0753):c.2637T>A (p.Asp879Glu)	KIAA0753 (D580E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2170037	NM_014804.3(KIAA0753):c.2632G>A (p.Glu878Lys)	KIAA0753 (E579K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2992474	NM_014804.3(KIAA0753):c.2631C>T (p.Ala877=)	KIAA0753	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1609953	NM_014804.3(KIAA0753):c.2625C>T (p.Ser875=)	KIAA0753	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1548891	NM_014804.3(KIAA0753):c.2613C>A (p.Ala871=)	KIAA0753	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3114119	NM_014804.3(KIAA0753):c.2612C>T (p.Ala871Val)	KIAA0753 (A871V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1375484	NM_014804.3(KIAA0753):c.2611G>A (p.Ala871Thr)	KIAA0753 (A572T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2010684	NM_014804.3(KIAA0753):c.2606G>C (p.Arg869Thr)	KIAA0753 (R570T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1425418	NM_014804.3(KIAA0753):c.2593G>A (p.Gly865Arg)	KIAA0753 (G566R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1585600	NM_014804.3(KIAA0753):c.2580G>C (p.Val860=)	KIAA0753	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2476588	NM_014804.3(KIAA0753):c.2573A>C (p.Glu858Ala)	KIAA0753 (E559A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1983934	NM_014804.3(KIAA0753):c.2572G>C (p.Glu858Gln)	KIAA0753 (E858Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1257261	NM_014804.3(KIAA0753):c.2562-68G>A	KIAA0753	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229613	NM_014804.3(KIAA0753):c.2562-111G>A	KIAA0753	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284254	NM_014804.3(KIAA0753):c.2562-145A>G	KIAA0753	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1902658	NM_014804.3(KIAA0753):c.2561+20T>C	KIAA0753	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023494	NM_014804.3(KIAA0753):c.2559C>A (p.Gly853=)	KIAA0753	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1941010	NM_014804.3(KIAA0753):c.2550C>T (p.Pro850=)	KIAA0753	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1403423	NM_014804.3(KIAA0753):c.2533A>G (p.Ile845Val)	KIAA0753 (I845V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1906363	NM_014804.3(KIAA0753):c.2527G>A (p.Val843Met)	KIAA0753 (V544M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1404125	NM_014804.3(KIAA0753):c.2512C>T (p.Arg838Cys)	KIAA0753 (R539C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1461827	NM_014804.3(KIAA0753):c.2488A>G (p.Ile830Val)	KIAA0753 (I830V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1919805	NM_014804.3(KIAA0753):c.2458A>G (p.Ile820Val)	KIAA0753 (I820V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1951801	NM_014804.3(KIAA0753):c.2441-14C>A	KIAA0753	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265828	NM_014804.3(KIAA0753):c.2441-191G>T	KIAA0753	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275526	NM_014804.3(KIAA0753):c.2441-224A>G	KIAA0753	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1351091	NM_014804.3(KIAA0753):c.2431G>A (p.Glu811Lys)	KIAA0753 (E811K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2075285	NM_014804.3(KIAA0753):c.2428G>A (p.Glu810Lys)	KIAA0753 (E810K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1350675	NM_014804.3(KIAA0753):c.2413C>T (p.Arg805Ter)	KIAA0753 (R506* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2976125	NM_014804.3(KIAA0753):c.2397C>T (p.Ile799=)	KIAA0753	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2410729	NM_014804.3(KIAA0753):c.2387A>G (p.Tyr796Cys)	KIAA0753 (Y497C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2977808	NM_014804.3(KIAA0753):c.2377C>T (p.Arg793Cys)	KIAA0753 (R793C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 620532	NM_014804.3(KIAA0753):c.2365C>T (p.Gln789Ter)	KIAA0753 (Q789* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1195878	NM_014804.3(KIAA0753):c.2359-1G>C	KIAA0753	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 38	GPathogenic
Select item 2176978	NM_014804.3(KIAA0753):c.2359-5dup	KIAA0753	Duplication (intron variant)	not provided	GBenign
Select item 737216	NM_014804.3(KIAA0753):c.2359-5del	KIAA0753	Deletion (intron variant)	not provided	GLikely benign
Select item 1910596	NM_014804.3(KIAA0753):c.2359-13T>C	KIAA0753	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920016	NM_014804.3(KIAA0753):c.2359-19T>C	KIAA0753	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233346	NM_014804.3(KIAA0753):c.2359-105G>A	KIAA0753	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256980	NM_014804.3(KIAA0753):c.2359-125G>A	KIAA0753	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1533296	NM_014804.3(KIAA0753):c.2358+18G>A	KIAA0753	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667921	NM_014804.3(KIAA0753):c.2358+17C>T	KIAA0753	Single nucleotide variant (intron variant)	not provided	GLikely benign

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