ClinVar for Gene (Select 219844) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381472	NM_001134793.2(HYLS1):c.-26+2594C>T	HYLS1, PUS3 (G181R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3377694	NM_031307.4(PUS3):c.1225C>T (p.Arg409Cys)	HYLS1, PUS3 (R201C +1 more)	Single nucleotide variant (missense variant +1 more)	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	GUncertain significance
Select item 3365507	NM_001134793.2(HYLS1):c.-25-3216G>A	HYLS1, PUS3 (R53C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365506	NM_001134793.2(HYLS1):c.-25-3199C>T	HYLS1, PUS3 (G47E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342342	NM_001134793.2(HYLS1):c.-25-3153G>A	HYLS1, PUS3 (Q32*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3149849	NM_031307.4(PUS3):c.741G>C (p.Gln247His)	HYLS1, PUS3 (Q247H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3149848	NM_031307.4(PUS3):c.698G>T (p.Gly233Val)	HYLS1, PUS3 (G233V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3149847	NM_031307.4(PUS3):c.684G>T (p.Met228Ile)	PUS3, HYLS1 (M20I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3149845	NM_031307.4(PUS3):c.287C>T (p.Ala96Val)	HYLS1, PUS3 (A96V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3149844	NM_031307.4(PUS3):c.1328A>G (p.His443Arg)	HYLS1, PUS3 (H443R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3149842	NM_031307.4(PUS3):c.1250G>A (p.Arg417His)	HYLS1, PUS3 (R417H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3107748	NM_001134793.2(HYLS1):c.731A>C (p.Gln244Pro)	HYLS1, PUS3 (Q244P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063192	GRCh37/hg19 11q24.2-25(chr11:125511834-134938470)x1	ACAD8, ACRV1 +49 more	Copy number loss	not specified	GPathogenic
Select item 3063186	GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1	ACRV1, BLID +73 more	Copy number loss	not specified	GPathogenic
Select item 3045620	NM_001134793.2(HYLS1):c.-5A>C	HYLS1, PUS3	Single nucleotide variant (5 prime UTR variant +1 more)	HYLS1-related disorder	GLikely benign
Select item 3036439	NM_031307.4(PUS3):c.660T>C (p.His220=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	PUS3-related disorder	GLikely benign
Select item 3012170	NM_001134793.2(HYLS1):c.639A>T (p.Val213=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3009891	NM_001134793.2(HYLS1):c.39T>C (p.Asn13=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3009415	NM_001134793.2(HYLS1):c.655T>G (p.Tyr219Asp)	HYLS1, PUS3 (Y219D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2997019	NM_001134793.2(HYLS1):c.786C>T (p.Asn262=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2992999	NM_001134793.2(HYLS1):c.828T>C (p.Arg276=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2992784	NM_001134793.2(HYLS1):c.744A>C (p.Arg248=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2992628	NM_031307.4(PUS3):c.379-8C>T	HYLS1, PUS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976725	NM_031307.4(PUS3):c.675G>A (p.Leu225=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2909575	NM_001134793.2(HYLS1):c.150C>T (p.Pro50=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2907421	NM_031307.4(PUS3):c.55C>T (p.Arg19Ter)	PUS3, HYLS1 (R19*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2902051	NM_001134793.2(HYLS1):c.99G>A (p.Gly33=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2897503	NM_001134793.2(HYLS1):c.621G>T (p.Arg207=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2876212	NM_001134793.2(HYLS1):c.321A>G (p.Val107=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2871208	NM_001134793.2(HYLS1):c.303A>G (p.Arg101=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2846776	NM_001134793.2(HYLS1):c.165A>C (p.Ser55=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2844910	NM_001134793.2(HYLS1):c.813A>G (p.Lys271=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2844314	NM_001134793.2(HYLS1):c.609A>G (p.Leu203=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2844183	NM_001134793.2(HYLS1):c.495A>G (p.Gln165=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2833456	NM_001134793.2(HYLS1):c.507T>C (p.Ile169=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2826916	NM_001134793.2(HYLS1):c.585T>C (p.Phe195=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2826695	NM_001134793.2(HYLS1):c.882C>T (p.Phe294=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2808066	NM_001134793.2(HYLS1):c.456A>G (p.Gln152=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2790831	NM_001134793.2(HYLS1):c.612C>T (p.Ser204=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2788595	NM_001134793.2(HYLS1):c.810G>A (p.Lys270=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2766349	NM_001134793.2(HYLS1):c.471A>G (p.Pro157=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2760719	NM_031307.4(PUS3):c.675G>C (p.Leu225Phe)	HYLS1, PUS3 (L17F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2759911	NM_001134793.2(HYLS1):c.504C>A (p.Leu168=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2754601	NM_001134793.2(HYLS1):c.696T>C (p.Asp232=)	PUS3, HYLS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2749070	NM_001134793.2(HYLS1):c.21T>C (p.Asp7=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2717205	NM_001134793.2(HYLS1):c.723C>T (p.Val241=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2709958	NM_001134793.2(HYLS1):c.672C>T (p.Asp224=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2700004	NM_001134793.2(HYLS1):c.24A>C (p.Gly8=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2682259	NM_031307.4(PUS3):c.438_442del (p.Asn146fs)	HYLS1, PUS3 (N146fs)	Deletion (frameshift variant +2 more)	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2623208	NM_031307.4(PUS3):c.941A>T (p.Tyr314Phe)	HYLS1, PUS3 (Y106F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604946	NM_001134793.2(HYLS1):c.175G>A (p.Gly59Arg)	HYLS1, PUS3 (G59R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2573700	NM_001134793.2(HYLS1):c.839G>T (p.Arg280Leu)	HYLS1, PUS3 (R280L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2551994	NM_001134793.2(HYLS1):c.197T>A (p.Val66Glu)	HYLS1, PUS3 (V66E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534055	NM_001134793.2(HYLS1):c.614G>A (p.Arg205Gln)	HYLS1, PUS3 (R205Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533985	NM_031307.4(PUS3):c.798G>C (p.Gln266His)	HYLS1, PUS3 (Q266H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521731	NM_031307.4(PUS3):c.945T>C (p.Ser315=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 2493958	NM_031307.4(PUS3):c.1307T>C (p.Ile436Thr)	HYLS1, PUS3 (I436T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2445708	NM_001134793.2(HYLS1):c.268C>T (p.Arg90Ter)	HYLS1, PUS3 (R90*)	Single nucleotide variant (nonsense +1 more)	Hydrolethalus syndrome	GLikely pathogenic
Select item 2444715	NM_001134793.2(HYLS1):c.-25-3062C>G	HYLS1, PUS3 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 2426317	NC_000011.9:g.(?_123504851)_(126163012_?)del	ACRV1, CCDC15 +56 more	Deletion	not provided	GUncertain significance
Select item 2416888	NM_031307.4(PUS3):c.577C>T (p.Arg193Trp)	HYLS1, PUS3 (R193W)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2401759	NM_001134793.2(HYLS1):c.182G>A (p.Arg61Gln)	HYLS1, PUS3 (R61Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370591	NM_001134793.2(HYLS1):c.56G>A (p.Arg19Gln)	HYLS1, PUS3 (R19Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344484	NM_031307.4(PUS3):c.913A>G (p.Ile305Val)	HYLS1, PUS3 (I97V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2339833	NM_031307.4(PUS3):c.405G>C (p.Gln135His)	HYLS1, PUS3 (Q135H)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2332775	NM_001134793.2(HYLS1):c.548A>T (p.Glu183Val)	HYLS1, PUS3 (E183V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330550	NM_001134793.2(HYLS1):c.292G>T (p.Val98Leu)	HYLS1, PUS3 (V98L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309572	NM_031307.4(PUS3):c.224G>A (p.Gly75Glu)	HYLS1, PUS3 (G75E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293072	NM_031307.4(PUS3):c.398G>A (p.Arg133His)	HYLS1, PUS3 (R133H)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2288951	NM_031307.4(PUS3):c.1301G>A (p.Gly434Glu)	HYLS1, PUS3 (G434E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277529	NM_001134793.2(HYLS1):c.266T>C (p.Leu89Pro)	HYLS1, PUS3 (L89P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270629	NM_031307.4(PUS3):c.310G>A (p.Glu104Lys)	HYLS1, PUS3 (E104K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264330	NM_031307.4(PUS3):c.1211_1213del (p.Glu404del)	HYLS1, PUS3 (E196del +1 more)	Deletion (inframe_deletion +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235186	NM_031307.4(PUS3):c.802G>A (p.Glu268Lys)	HYLS1, PUS3 (E268K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233366	NM_031307.4(PUS3):c.1265G>T (p.Gly422Val)	HYLS1, PUS3 (G214V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231660	NM_031307.4(PUS3):c.716G>A (p.Arg239Lys)	HYLS1, PUS3 (R239K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230592	NM_031307.4(PUS3):c.981dup (p.Lys328Ter)	HYLS1, PUS3 (K120* +1 more)	Duplication (nonsense +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2230098	NM_031307.4(PUS3):c.643A>C (p.Lys215Gln)	HYLS1, PUS3 (K215Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223011	NM_031307.4(PUS3):c.873A>C (p.Gln291His)	HYLS1, PUS3 (Q291H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216939	NM_001134793.2(HYLS1):c.666C>G (p.Asp222Glu)	HYLS1, PUS3 (D222E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2214159	NM_001134793.2(HYLS1):c.839G>A (p.Arg280His)	HYLS1, PUS3 (R280H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2193909	NM_031307.4(PUS3):c.1149T>C (p.Asp383=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2189694	NM_001134793.2(HYLS1):c.777T>C (p.Tyr259=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2188236	NM_001134793.2(HYLS1):c.729G>A (p.Glu243=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2184804	NM_031307.4(PUS3):c.517C>T (p.Arg173Cys)	HYLS1, PUS3 (R173C)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2181897	NM_001134793.2(HYLS1):c.510C>T (p.Cys170=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2181625	NM_031307.4(PUS3):c.482C>A (p.Thr161Asn)	HYLS1, PUS3 (T161N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2176888	NM_031307.4(PUS3):c.1249C>T (p.Arg417Cys)	HYLS1, PUS3 (R417C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2175765	NM_031307.4(PUS3):c.1295G>A (p.Arg432His)	PUS3, HYLS1 (R224H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2174664	NM_031307.4(PUS3):c.1242C>G (p.Leu414=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2168571	NM_001134793.2(HYLS1):c.759C>T (p.Ser253=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2166145	NM_031307.4(PUS3):c.446A>G (p.Glu149Gly)	PUS3, HYLS1 (E149G)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2162602	NM_031307.4(PUS3):c.476G>T (p.Arg159Leu)	HYLS1, PUS3 (R159L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2160050	NM_001134793.2(HYLS1):c.118A>C (p.Arg40=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2150054	NM_001134793.2(HYLS1):c.851C>A (p.Ala284Glu)	HYLS1, PUS3 (A284E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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