ClinVar for Gene (Select 55898) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3186549	NM_018671.5(UNC45A):c.571A>G (p.Ile191Val)	UNC45A (I191V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186548	NM_018671.5(UNC45A):c.2581A>G (p.Thr861Ala)	RCCD1-AS1, UNC45A (T846A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186547	NM_018671.5(UNC45A):c.2123C>T (p.Ala708Val)	UNC45A (A563V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186546	NM_018671.5(UNC45A):c.2017G>A (p.Ala673Thr)	UNC45A (A528T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186545	NM_018671.5(UNC45A):c.1910A>G (p.Lys637Arg)	UNC45A (K637R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186543	NM_018671.5(UNC45A):c.1555G>A (p.Ala519Thr)	UNC45A (A504T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186542	NM_018671.5(UNC45A):c.1516G>T (p.Gly506Cys)	UNC45A (G506C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104676	NM_001286451.2(HDDC3):c.394C>A (p.Arg132Ser)	HDDC3, LOC130057951 +1 more (R132S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3104675	NM_001286451.2(HDDC3):c.392A>G (p.Asn131Ser)	HDDC3, LOC130057951 +1 more (N131S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3064998	NM_018671.5(UNC45A):c.1500+1G>A	UNC45A	Single nucleotide variant (splice donor variant)	Osteootohepatoenteric syndrome	GUncertain significance
Select item 3063360	GRCh37/hg19 15q26.1(chr15:91488314-91521367)x1	PRC1, RCCD1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3062256	NM_018671.5(UNC45A):c.213+1G>C	UNC45A	Single nucleotide variant (splice donor variant)	Osteootohepatoenteric syndrome	GLikely pathogenic
Select item 3061788	NM_018671.5(UNC45A):c.2512G>C (p.Ala838Pro)	RCCD1-AS1, UNC45A (A693P +1 more)	Single nucleotide variant (missense variant)	Osteootohepatoenteric syndrome	GPathogenic
Select item 3061787	NM_018671.5(UNC45A):c.1451_1452insG (p.Asp484fs)	UNC45A (D339fs +2 more)	Insertion (frameshift variant)	Osteootohepatoenteric syndrome	GPathogenic
Select item 3061786	NM_018671.5(UNC45A):c.2182G>A (p.Glu728Lys)	UNC45A (E583K +1 more)	Single nucleotide variant (missense variant)	Osteootohepatoenteric syndrome	GPathogenic
Select item 3061785	NM_018671.5(UNC45A):c.721C>T (p.Arg241Ter)	UNC45A (R226* +1 more)	Single nucleotide variant (nonsense)	Osteootohepatoenteric syndrome	GPathogenic
Select item 3061784	NM_018671.5(UNC45A):c.689C>G (p.Thr230Arg)	UNC45A (T215R +1 more)	Single nucleotide variant (missense variant)	Osteootohepatoenteric syndrome	GPathogenic
Select item 3024390	NM_018671.5(UNC45A):c.-98G>T	LOC130057954, UNC45A	Single nucleotide variant (genic upstream transcript variant +2 more)	Cholestasis-edema syndrome, Norwegian type	GPathogenic
Select item 3020181	NM_018671.5(UNC45A):c.364G>A (p.Glu122Lys)	UNC45A (E107K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3016743	NM_018671.5(UNC45A):c.1196_1198del (p.Ile399del)	UNC45A (I384del +2 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3014972	NM_018671.5(UNC45A):c.1086A>G (p.Ala362=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012400	NM_018671.5(UNC45A):c.2304-8C>T	UNC45A, RCCD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3006282	NM_018671.5(UNC45A):c.1028-12G>T	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004442	NM_018671.5(UNC45A):c.2007-14C>T	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997918	NM_018671.5(UNC45A):c.2139C>G (p.Ala713=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996053	NM_018671.5(UNC45A):c.2422-18C>T	RCCD1-AS1, UNC45A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2995869	NM_018671.5(UNC45A):c.2076G>A (p.Ala692=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995504	NM_018671.5(UNC45A):c.2270T>C (p.Leu757Pro)	UNC45A (L742P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995017	NM_018671.5(UNC45A):c.1764G>A (p.Ala588=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990524	NM_018671.5(UNC45A):c.1920G>A (p.Leu640=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983897	NM_018671.5(UNC45A):c.2187+19C>T	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982994	NM_018671.5(UNC45A):c.519+10C>G	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981968	NM_018671.5(UNC45A):c.2074-16G>A	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981871	NM_018671.5(UNC45A):c.2303+17T>C	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980528	NM_018671.5(UNC45A):c.688-6C>A	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980489	NM_018671.5(UNC45A):c.210G>A (p.Lys70=)	UNC45A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979524	NM_018671.5(UNC45A):c.1309G>A (p.Gly437Ser)	UNC45A (G292S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975366	NM_018671.5(UNC45A):c.1596-14C>T	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975100	NM_018671.5(UNC45A):c.1096A>G (p.Asn366Asp)	UNC45A (N221D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975034	NM_018671.5(UNC45A):c.426+11G>C	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975001	NM_018671.5(UNC45A):c.687+17G>A	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974996	NM_018671.5(UNC45A):c.1437C>G (p.Val479=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974679	NM_018671.5(UNC45A):c.444G>A (p.Ser148=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974137	NM_018671.5(UNC45A):c.1281C>T (p.Asp427=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974066	NM_018671.5(UNC45A):c.2563C>T (p.Arg855Cys)	RCCD1-AS1, UNC45A (R855C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956169	NM_018671.5(UNC45A):c.214-18C>T	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917007	NM_018671.5(UNC45A):c.1851G>A (p.Lys617=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900108	NM_018671.5(UNC45A):c.857-5G>A	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2892625	NM_018671.5(UNC45A):c.2679G>A (p.Ser893=)	RCCD1-AS1, UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889072	NM_018671.5(UNC45A):c.1893C>T (p.Phe631=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888999	NM_018671.5(UNC45A):c.675G>A (p.Glu225=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880833	NM_018671.5(UNC45A):c.90G>A (p.Glu30=)	UNC45A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2877062	NM_018671.5(UNC45A):c.1878+11G>A	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875142	NM_018671.5(UNC45A):c.1305G>A (p.Leu435=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873293	NM_018671.5(UNC45A):c.499G>A (p.Gly167Ser)	UNC45A (G22S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872129	NM_018671.5(UNC45A):c.144G>A (p.Leu48=)	UNC45A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2867496	NM_018671.5(UNC45A):c.1506C>T (p.Leu502=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865070	NM_018671.5(UNC45A):c.2328T>A (p.Ala776=)	RCCD1-AS1, UNC45A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2857493	NM_018671.5(UNC45A):c.2091C>T (p.Ala697=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847190	NM_018671.5(UNC45A):c.444G>C (p.Ser148=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2843425	NM_018671.5(UNC45A):c.912G>A (p.Glu304=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841014	NM_018671.5(UNC45A):c.825C>T (p.Gly275=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838336	NM_018671.5(UNC45A):c.2006+6C>T	UNC45A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2836836	NM_018671.5(UNC45A):c.1710T>C (p.Ala570=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829242	NM_018671.5(UNC45A):c.2422-7G>C	RCCD1-AS1, UNC45A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2814846	NM_018671.5(UNC45A):c.78G>A (p.Lys26=)	UNC45A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2813284	NM_018671.5(UNC45A):c.2085G>C (p.Pro695=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808206	NM_018671.5(UNC45A):c.1879-5C>T	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806241	NM_018671.5(UNC45A):c.1879-16C>T	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800768	NM_018671.5(UNC45A):c.1063C>T (p.Gln355Ter)	UNC45A (Q210* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2800666	NM_018671.5(UNC45A):c.2376C>T (p.Arg792=)	RCCD1-AS1, UNC45A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2793106	NM_018671.5(UNC45A):c.763C>T (p.Leu255=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789669	NM_018671.5(UNC45A):c.2006+7C>T	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786092	NM_018671.5(UNC45A):c.1148A>G (p.Lys383Arg)	UNC45A (K238R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778863	NM_018671.5(UNC45A):c.1095A>T (p.Ala365=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776840	NM_018671.5(UNC45A):c.856+15G>A	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776455	NM_018671.5(UNC45A):c.292C>A (p.Arg98=)	UNC45A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2771572	NM_018671.5(UNC45A):c.688-18T>C	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769504	NM_018671.5(UNC45A):c.1830G>A (p.Val610=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769317	NM_018671.5(UNC45A):c.576C>T (p.Phe192=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2758920	NM_018671.5(UNC45A):c.2187+19C>G	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2742065	NM_018671.5(UNC45A):c.610C>T (p.Leu204=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2740929	NM_018671.5(UNC45A):c.214-7C>T	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2740682	NM_018671.5(UNC45A):c.1878+4_1878+6del	UNC45A	Deletion (intron variant)	not provided	GUncertain significance
Select item 2713005	NM_018671.5(UNC45A):c.777C>T (p.His259=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2709296	NM_018671.5(UNC45A):c.251-5C>T	UNC45A	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2706253	NM_018671.5(UNC45A):c.1371C>T (p.Ala457=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2694889	NM_018671.5(UNC45A):c.1482C>A (p.Ile494=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2694246	NM_018671.5(UNC45A):c.1595+19C>T	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2645717	NM_018671.5(UNC45A):c.966G>A (p.Ala322=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645716	NM_001286451.2(HDDC3):c.414G>A (p.Trp138Ter)	HDDC3, UNC45A (W138*)	Single nucleotide variant (nonsense +3 more)	not provided	GLikely benign
Select item 2627373	NM_018671.5(UNC45A):c.2779T>G (p.Cys927Gly)	RCCD1-AS1, UNC45A (C782G +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2627372	NM_018671.5(UNC45A):c.2678C>T (p.Ser893Leu)	RCCD1-AS1, UNC45A (S748L +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2622894	NM_018671.5(UNC45A):c.1026A>C (p.Gln342His)	UNC45A (Q327H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621913	NM_018671.5(UNC45A):c.1912A>C (p.Lys638Gln)	UNC45A (K638Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605283	NM_018671.5(UNC45A):c.1456T>C (p.Tyr486His)	UNC45A (Y341H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2536535	NM_018671.5(UNC45A):c.2660T>A (p.Leu887Gln)	RCCD1-AS1, UNC45A (L872Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521448	NM_018671.5(UNC45A):c.1021G>A (p.Asp341Asn)	UNC45A (D341N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	IDH2, IGF1R +86 more	Copy number gain	not provided	GPathogenic

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