HYLS1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 362

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 147400	GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1	ACRV1, BSX +166 more	Copy number loss	See cases	GPathogenic
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ACAD8, ACRV1 +368 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	ACAD8, ACRV1 +363 more	Copy number loss	See cases	GPathogenic
Select item 57206	GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1	ACAD8, ACRV1 +353 more	Copy number loss	See cases	GPathogenic
Select item 145337	GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	ACAD8, ACRV1 +352 more	Copy number loss	See cases	GPathogenic
Select item 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	ACAD8, ACRV1 +343 more	Copy number loss	See cases	GPathogenic
Select item 149702	GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1	LOC121392954, LOC121832822 +312 more	Copy number loss	See cases	GPathogenic
Select item 147420	GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1	ACAD8, ACRV1 +299 more	Copy number loss	See cases	GPathogenic
Select item 303345	NM_145014.3(HYLS1):c.-503G>A	HYLS1	Single nucleotide variant (5 prime UTR variant)	Hydrolethalus syndrome	GUncertain significance
Select item 57257	GRCh38/hg38 11q24.2-24.3(chr11:125891315-129072391)x1	ARHGAP32, CDON +116 more	Copy number loss	See cases	GPathogenic
Select item 303352	NM_001134793.2(HYLS1):c.-67_-65dup	HYLS1	Duplication (5 prime UTR variant +1 more)	Hydrolethalus syndrome	GUncertain significance
Select item 303351	NM_001134793.2(HYLS1):c.-66_-65dup	HYLS1	Duplication (5 prime UTR variant +1 more)	Hydrolethalus syndrome	GBenign
Select item 303350	NM_001134793.2(HYLS1):c.-65dup	HYLS1	Duplication (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 303354	NM_001134793.2(HYLS1):c.-26+10dup	HYLS1	Duplication (intron variant)	Hydrolethalus syndrome	GUncertain significance
Select item 303355	NM_001134793.2(HYLS1):c.-26+10_-26+11dup	HYLS1	Duplication (intron variant)	Hydrolethalus syndrome	GUncertain significance
Select item 303359	NM_001134793.2(HYLS1):c.-26+10_-26+11insTA	HYLS1	Insertion (intron variant)	Hydrolethalus syndrome	GUncertain significance
Select item 303358	NM_001134793.2(HYLS1):c.-26+11dup	HYLS1	Duplication (intron variant)	Hydrolethalus syndrome	GUncertain significance
Select item 303357	NM_001134793.2(HYLS1):c.-26+10_-26+11insAA	HYLS1	Insertion (intron variant)	Hydrolethalus syndrome	GUncertain significance
Select item 303356	NM_001134793.2(HYLS1):c.-26+10_-26+11insA	HYLS1	Insertion (intron variant)	Hydrolethalus syndrome	GUncertain significance
Select item 303361	NM_001134793.2(HYLS1):c.-26+27_-26+28dup	HYLS1	Duplication (intron variant)	Hydrolethalus syndrome	GBenign
Select item 303360	NM_001134793.2(HYLS1):c.-26+28dup	HYLS1	Duplication (intron variant)	not provided +1 more	GUncertain significance
Select item 1911395	NM_031307.4(PUS3):c.1409G>A (p.Arg470Lys)	HYLS1, PUS3 (R470K +1 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 738872	NM_031307.4(PUS3):c.1404G>A (p.Thr468=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1168501	NM_031307.4(PUS3):c.1380G>C (p.Glu460Asp)	HYLS1, PUS3 (E252D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 742489	NM_031307.4(PUS3):c.1369C>T (p.Leu457=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1442454	NM_031307.4(PUS3):c.1361A>G (p.Asn454Ser)	HYLS1, PUS3 (N246S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1878675	NM_031307.4(PUS3):c.1333GAA[1] (p.Glu446del)	HYLS1, PUS3 (E238del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	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 1898950	NM_031307.4(PUS3):c.1320T>C (p.His440=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 253169	NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter)	HYLS1, PUS3 (R435* +1 more)	Single nucleotide variant (nonsense +1 more)	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	GPathogenic
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 738888	NM_031307.4(PUS3):c.1296T>C (p.Arg432=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1502115	NM_031307.4(PUS3):c.1294C>T (p.Arg432Cys)	HYLS1, PUS3 (R224C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 728635	NM_031307.4(PUS3):c.1264G>A (p.Gly422Arg)	HYLS1, PUS3 (G214R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 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 1545663	NM_031307.4(PUS3):c.1224G>A (p.Met408Ile)	HYLS1, PUS3 (M200I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1367905	NM_031307.4(PUS3):c.1220A>G (p.Lys407Arg)	HYLS1, PUS3 (K407R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1463800	NM_031307.4(PUS3):c.1213G>A (p.Gly405Arg)	HYLS1, PUS3 (G197R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 619235	NM_031307.4(PUS3):c.1181_1182del (p.Ser394fs)	PUS3, HYLS1 (S394fs +1 more)	Microsatellite (frameshift variant +1 more)	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	GLikely pathogenic
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 1436658	NM_031307.4(PUS3):c.1124C>T (p.Pro375Leu)	HYLS1, PUS3 (P167L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1596292	NM_031307.4(PUS3):c.1122A>C (p.Val374=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1448260	NM_031307.4(PUS3):c.1112C>G (p.Thr371Ser)	HYLS1, PUS3 (T163S +1 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 764416	NM_031307.4(PUS3):c.1104A>G (p.Gly368=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 790113	NM_031307.4(PUS3):c.1089T>C (p.Tyr363=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 931750	NM_031307.4(PUS3):c.1082T>A (p.Met361Lys)	PUS3, HYLS1 (M153K +1 more)	Single nucleotide variant (missense variant +1 more)	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	GUncertain significance
Select item 1313527	NM_001134793.2(HYLS1):c.-26+2693C>G	HYLS1, PUS3 (A148P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 930377	NM_031307.4(PUS3):c.1048C>T (p.Gln350Ter)	HYLS1, PUS3 (Q350* +1 more)	Single nucleotide variant (nonsense +1 more)	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	GLikely pathogenic
Select item 2114947	NM_031307.4(PUS3):c.1037C>T (p.Thr346Ile)	HYLS1, PUS3 (T138I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 741920	NM_031307.4(PUS3):c.1011C>T (p.Asp337=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2020175	NM_031307.4(PUS3):c.996C>G (p.Val332=)	PUS3, HYLS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 2017248	NM_031307.4(PUS3):c.945-12_945-11del	HYLS1, PUS3	Microsatellite (intron variant)	not provided	GLikely benign
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 1911476	NM_031307.4(PUS3):c.941A>G (p.Tyr314Cys)	HYLS1, PUS3 (Y106C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1566124	NM_031307.4(PUS3):c.924T>C (p.Asn308=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1802653	NM_031307.4(PUS3):c.896T>G (p.Ile299Ser)	HYLS1, PUS3 (I299S +1 more)	Single nucleotide variant (missense variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1563138	NM_031307.4(PUS3):c.894T>C (p.Ile298=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2114960	NM_031307.4(PUS3):c.876A>C (p.Gly292=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1949267	NM_031307.4(PUS3):c.841T>C (p.Cys281Arg)	HYLS1, PUS3 (C281R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 978657	NM_031307.4(PUS3):c.838C>T (p.Arg280Ter)	HYLS1, PUS3 (R280* +1 more)	Single nucleotide variant (nonsense +1 more)	PUS3-related disorder +5 more	GLikely pathogenic
Select item 1929066	NM_031307.4(PUS3):c.824T>C (p.Leu275Pro)	HYLS1, PUS3 (L67P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1018864	NM_031307.4(PUS3):c.815A>G (p.Gln272Arg)	HYLS1, PUS3 (Q272R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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 1550647	NM_031307.4(PUS3):c.732T>C (p.Ala244=)	HYLS1, PUS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1366942	NM_031307.4(PUS3):c.714G>T (p.Gln238His)	HYLS1, PUS3 (Q30H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1433166	NM_031307.4(PUS3):c.700G>T (p.Val234Leu)	HYLS1, PUS3 (V26L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 1918785	NM_031307.4(PUS3):c.697G>A (p.Gly233Ser)	HYLS1, PUS3 (G233S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

<< First< Prev

Page of 4