"GeneDx"[submitter] AND "HYLS1"[gene] - ClinVar

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Items: 26

	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 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
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 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 632593	NM_031307.4(PUS3):c.578G>A (p.Arg193Gln)	HYLS1, PUS3 (R193Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1313520	NM_001134793.2(HYLS1):c.-25-3745C>T	HYLS1, PUS3 (C190Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1315247	NM_001134793.2(HYLS1):c.-25-3733G>T	HYLS1, PUS3 (A186D)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 632594	NM_031307.4(PUS3):c.497G>A (p.Arg166Gln)	PUS3, HYLS1 (R166Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome +1 more	GUncertain significance
Select item 1388224	NM_031307.4(PUS3):c.205A>G (p.Ile69Val)	HYLS1, PUS3 (I69V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 1305957	NM_001134793.2(HYLS1):c.-25-3215C>G	HYLS1, PUS3 (K52N)	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 1308699	NM_031307.4(PUS3):c.64G>A (p.Glu22Lys)	PUS3, HYLS1 (E22K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1683866	NM_001134793.2(HYLS1):c.-25-3061A>G	HYLS1, PUS3 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 692029	NM_031307.4(PUS3):c.1A>G (p.Met1Val)	HYLS1, PUS3 (M1V)	Single nucleotide variant (missense variant +2 more)	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1273469	NM_031307.4(PUS3):c.-25C>G	HYLS1, PUS3	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1249133	NM_031307.4(PUS3):c.-28G>A	HYLS1, PUS3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1243822	NM_001134793.2(HYLS1):c.-25-313G>A	HYLS1, PUS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 303363	NM_001134793.2(HYLS1):c.91T>C (p.Cys31Arg)	HYLS1, PUS3 (C31R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1143	NM_031307.4(PUS3):c.-47+3170T>C	HYLS1, PUS3 (D211G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
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 1253616	NM_001134793.2(HYLS1):c.*262A>C	HYLS1, PUS3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 253601	GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1	ACAD8, ACRV1 +113 more	Copy number loss	See cases	GPathogenic
Select item 253521	GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1	CCDC15, CDON +108 more	Copy number loss	See cases	GPathogenic

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Items: 26