HS3ST4[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 3284810	NM_006040.3(HS3ST4):c.8G>A (p.Arg3Gln)	HS3ST4 (R3Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284808	NM_006040.3(HS3ST4):c.47C>T (p.Pro16Leu)	HS3ST4 (P16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311541	NM_006040.3(HS3ST4):c.235C>T (p.Pro79Ser)	HS3ST4 (P79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107008	NM_006040.3(HS3ST4):c.236C>T (p.Pro79Leu)	HS3ST4 (P79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465314	NM_006040.3(HS3ST4):c.250C>G (p.Leu84Val)	HS3ST4 (L84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253637	NM_006040.3(HS3ST4):c.271C>T (p.Leu91Phe)	HS3ST4 (L91F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107009	NM_006040.3(HS3ST4):c.289C>T (p.Pro97Ser)	HS3ST4 (P97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466805	NM_006040.3(HS3ST4):c.320G>A (p.Ser107Asn)	HS3ST4 (S107N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467628	NM_006040.3(HS3ST4):c.321C>A (p.Ser107Arg)	HS3ST4 (S107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107010	NM_006040.3(HS3ST4):c.341C>T (p.Pro114Leu)	HS3ST4 (P114L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107011	NM_006040.3(HS3ST4):c.343C>G (p.Pro115Ala)	HS3ST4 (P115A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530259	NM_006040.3(HS3ST4):c.386C>G (p.Pro129Arg)	HS3ST4 (P129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300812	NM_006040.3(HS3ST4):c.428C>T (p.Pro143Leu)	HS3ST4 (P143L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458782	NM_006040.3(HS3ST4):c.447G>T (p.Met149Ile)	HS3ST4 (M149I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381750	NM_006040.3(HS3ST4):c.451A>T (p.Thr151Ser)	HS3ST4 (T151S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107012	NM_006040.3(HS3ST4):c.459G>T (p.Gln153His)	HS3ST4 (Q153H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284811	NM_006040.3(HS3ST4):c.469C>T (p.Pro157Ser)	HS3ST4 (P157S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284809	NM_006040.3(HS3ST4):c.470C>A (p.Pro157Gln)	HS3ST4 (P157Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312892	NM_006040.3(HS3ST4):c.491C>T (p.Ser164Phe)	HS3ST4 (S164F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284812	NM_006040.3(HS3ST4):c.504C>G (p.Asp168Glu)	HS3ST4 (D168E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587987	NM_006040.3(HS3ST4):c.504C>A (p.Asp168Glu)	HS3ST4 (D168E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107013	NM_006040.3(HS3ST4):c.536G>A (p.Gly179Glu)	HS3ST4 (G179E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107014	NM_006040.3(HS3ST4):c.682G>A (p.Val228Ile)	HS3ST4 (V228I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552231	NM_006040.3(HS3ST4):c.700G>T (p.Asp234Tyr)	HS3ST4 (D234Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149643	GRCh38/hg38 16p12.1(chr16:26102190-26356644)x3	HS3ST4, LOC102723536 +1 more	Copy number gain	See cases	GLikely benign
Select item 3107015	NM_006040.3(HS3ST4):c.871G>A (p.Val291Met)	HS3ST4 (V291M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589194	NM_006040.3(HS3ST4):c.956G>C (p.Arg319Pro)	HS3ST4 (R319P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107016	NM_006040.3(HS3ST4):c.964G>A (p.Gly322Arg)	HS3ST4 (G322R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107007	NM_006040.3(HS3ST4):c.1057C>T (p.Leu353Phe)	HS3ST4 (L353F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545525	NM_006040.3(HS3ST4):c.1172C>A (p.Thr391Asn)	HS3ST4 (T391N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063434	GRCh37/hg19 16p12.1(chr16:25900524-27489837)x3	C16orf82, GTF3C1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 2573121	GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1	NPIPB5, PALB2 +64 more	Copy number loss	Chromosome 16p12.2-p11.2 deletion syndrome	GPathogenic
Select item 1808696	GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	ALDOA, APOBR +93 more	Copy number gain	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1328113	GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1	APOBR, AQP8 +67 more	Copy number loss	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 972938	GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3	KDM8, LAT +69 more	Copy number gain	not provided	Gnot provided
Select item 830213	NC_000016.9:g.21530207_29332245del	KDM8, LAT +64 more	Deletion	not provided	GPathogenic
Select item 815811	GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3	GGA2, GSG1L +64 more	Copy number gain	not provided	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 685675	GRCh37/hg19 16p12.1(chr16:25617058-25870306)x1	HS3ST4	Copy number loss	not provided	GUncertain significance
Select item 564297	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1	APOBR, AQP8 +65 more	Copy number loss	not provided	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443382	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3	APOBR, AQP8 +65 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 443086	GRCh37/hg19 16p12.2-11.2(chr16:22718350-28858721)x4	APOBR, AQP8 +44 more	Copy number gain	See cases	GPathogenic
Select item 442244	GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1	ALDOA, APOBR +102 more	Copy number loss	See cases	GPathogenic
Select item 441915	GRCh37/hg19 16p12.1(chr16:25900524-27489837)x3	C16orf82, GTF3C1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	ACSM1, ACSM2A +119 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395234	GRCh37/hg19 16p12.1(chr16:25884104-26103622)x3	HS3ST4	Copy number gain	See cases	GLikely benign
Select item 394898	GRCh37/hg19 16p12.1(chr16:25961844-26020520)x1	HS3ST4	Copy number loss	See cases	GBenign
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221513	GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	ACSM1, ACSM2A +95 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 67