HS3ST3B1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 58100	GRCh38/hg38 17p12(chr17:14126296-15659587)x3	CDRT15, CDRT3 +27 more	Copy number gain	See cases	GPathogenic
Select item 8430	NC_000017.11:g.(14170534_14194724)_(15567585_15591587)del	CDRT15, CDRT3 +25 more	Deletion	Hereditary liability to pressure palsies +2 more	GPathogenic
Select item 545215	NC_000017.11:g.(?_14178908)_(15518547_?)del	CDRT15, CDRT3 +23 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 154234	GRCh38/hg38 17p12(chr17:14179737-15664355)x3	CDRT15, CDRT3 +27 more	Copy number gain	See cases	GPathogenic
Select item 154140	GRCh38/hg38 17p12(chr17:14179737-15571773)x1	CDRT15, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 545216	NC_000017.11:g.(?_14183541)_(15573247_?)del	LOC130060304, LOC130060305 +25 more	Deletion	Autism	GLikely pathogenic
Select item 155232	GRCh38/hg38 17p12(chr17:14184470-15586786)x1	CDRT15, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 155236	GRCh38/hg38 17p12(chr17:14184616-15597331)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 153289	GRCh38/hg38 17p12(chr17:14184616-15588218)x1	CDRT15, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 153241	GRCh38/hg38 17p12(chr17:14184616-15581544)x1	CDRT15, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 153240	GRCh38/hg38 17p12(chr17:14184616-15581544)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 152376	GRCh38/hg38 17p12(chr17:14184616-15581044)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 152875	GRCh38/hg38 17p12(chr17:14186983-15570276)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 58103	GRCh38/hg38 17p12(chr17:14186983-15563870)x3	CDRT15, CDRT3 +23 more	Copy number gain	See cases	GPathogenic
Select item 58102	GRCh38/hg38 17p12(chr17:14186983-15578926)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 160871	GRCh38/hg38 17p12(chr17:14208455-15538752)x3	CDRT15, CDRT3 +21 more	Copy number gain	See cases	GPathogenic
Select item 154772	GRCh38/hg38 17p12(chr17:14208455-15579558)x3	CDRT15, CDRT3 +23 more	Copy number gain	See cases	GPathogenic
Select item 149424	GRCh38/hg38 17p12(chr17:14208455-15579558)x1	CDRT15, CDRT3 +23 more	Copy number loss	See cases	GPathogenic
Select item 148562	GRCh38/hg38 17p12(chr17:14208455-15538755)x1	CDRT15, CDRT3 +21 more	Copy number loss	See cases	GPathogenic
Select item 148561	GRCh38/hg38 17p12(chr17:14208455-15538755)x3	CDRT15, CDRT3 +21 more	Copy number gain	See cases	GPathogenic
Select item 147669	GRCh38/hg38 17p12(chr17:14208455-15588434)x1	CDRT15, CDRT3 +23 more	Copy number loss	See cases	GPathogenic
Select item 33735	GRCh38/hg38 17p12(chr17:14208455-15538752)x3	CDRT15, CDRT3 +21 more	Copy number gain	See cases	GPathogenic
Select item 32888	GRCh38/hg38 17p12(chr17:14208455-15538752)x1	CDRT15, CDRT3 +21 more	Copy number loss	See cases	GPathogenic
Select item 3107006	NM_006041.3(HS3ST3B1):c.5G>T (p.Gly2Val)	HS3ST3B1 (G2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107003	NM_006041.3(HS3ST3B1):c.17G>C (p.Ser6Thr)	HS3ST3B1 (S6T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360618	NM_006041.3(HS3ST3B1):c.22G>C (p.Gly8Arg)	HS3ST3B1 (G8R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774514	NM_006041.3(HS3ST3B1):c.33C>T (p.Cys11=)	HS3ST3B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 720013	NM_006041.3(HS3ST3B1):c.53T>A (p.Leu18His)	HS3ST3B1 (L18H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2338037	NM_006041.3(HS3ST3B1):c.100G>C (p.Ala34Pro)	HS3ST3B1 (A34P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107002	NM_006041.3(HS3ST3B1):c.115A>G (p.Met39Val)	HS3ST3B1 (M39V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233659	NM_006041.3(HS3ST3B1):c.169G>T (p.Ala57Ser)	HS3ST3B1 (A57S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310628	NM_006041.3(HS3ST3B1):c.235A>T (p.Thr79Ser)	HS3ST3B1 (T79S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107004	NM_006041.3(HS3ST3B1):c.260G>C (p.Arg87Thr)	HS3ST3B1 (R87T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412432	NM_006041.3(HS3ST3B1):c.272G>T (p.Arg91Leu)	HS3ST3B1 (R91L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588883	NM_006041.3(HS3ST3B1):c.311T>C (p.Met104Thr)	HS3ST3B1 (M104T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387534	NM_006041.3(HS3ST3B1):c.328A>T (p.Ser110Cys)	HS3ST3B1 (S110C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474155	NM_006041.3(HS3ST3B1):c.332C>G (p.Pro111Arg)	HS3ST3B1 (P111R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708974	NM_006041.3(HS3ST3B1):c.333G>A (p.Pro111=)	HS3ST3B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2294570	NM_006041.3(HS3ST3B1):c.398G>A (p.Gly133Glu)	HS3ST3B1 (G133E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314914	NM_006041.3(HS3ST3B1):c.421A>G (p.Ile141Val)	HS3ST3B1 (I141V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107005	NM_006041.3(HS3ST3B1):c.467T>G (p.Phe156Cys)	HS3ST3B1 (F156C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489717	NM_006041.3(HS3ST3B1):c.519C>G (p.Phe173Leu)	HS3ST3B1 (F173L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600736	NM_006041.3(HS3ST3B1):c.607A>G (p.Ser203Gly)	HS3ST3B1 (S203G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386194	NM_006041.3(HS3ST3B1):c.623G>C (p.Arg208Pro)	HS3ST3B1 (R208P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310843	NM_006041.3(HS3ST3B1):c.733C>G (p.Arg245Gly)	HS3ST3B1 (R245G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244668	NM_006041.3(HS3ST3B1):c.739G>A (p.Asp247Asn)	HS3ST3B1 (D247N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614724	NM_006041.3(HS3ST3B1):c.902T>C (p.Ile301Thr)	HS3ST3B1 (I301T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391779	NM_006041.3(HS3ST3B1):c.958A>T (p.Ile320Phe)	HS3ST3B1 (I320F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492684	NM_006041.3(HS3ST3B1):c.987C>A (p.Asn329Lys)	HS3ST3B1 (N329K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107001	NM_006041.3(HS3ST3B1):c.1105C>A (p.Arg369Ser)	HS3ST3B1 (R369S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148867	GRCh37/hg19 17p12(chr17:14070220-15482833)x1	CDRT15, CDRT4 +6 more	Copy number loss	See cases	GPathogenic
Select item 3148860	GRCh37/hg19 17p12(chr17:14073536-15503234)x1	CDRT15, CDRT4 +7 more	Copy number loss	See cases	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2672715	GRCh37/hg19 17p12(chr17:14095306-15472344)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 2671610	Single allele	CDRT15, CDRT4 +6 more	Deletion	not provided	GPathogenic
Select item 2580345	GRCh37/hg19 17p12(chr17:14095256-15492591)x3	CDRT15, CDRT4 +7 more	Copy number gain	Charcot-Marie-Tooth disease type 1E	GPathogenic
Select item 2580333	GRCh37/hg19 17p12(chr17:14095256-15477547)x1	CDRT15, CDRT4 +6 more	Copy number loss	Hereditary liability to pressure palsies	GPathogenic
Select item 2498729	GRCh37/hg19 17p12(chr17:14095306-15472344)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 2498728	GRCh37/hg19 17p12(chr17:14095306-15466762)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1879390	GRCh37/hg19 17p12(chr17:14110127-15472344)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1808978	GRCh37/hg19 17p12(chr17:14078283-15479940)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1808684	GRCh37/hg19 17p12(chr17:14087934-15491532)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1808667	GRCh37/hg19 17p12(chr17:14083055-15484859)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1808665	GRCh37/hg19 17p12(chr17:14087934-15484358)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1808614	GRCh37/hg19 17p12(chr17:14073563-15479923)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1808605	GRCh37/hg19 17p12(chr17:14087934-15483608)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1808529	GRCh37/hg19 17p12(chr17:14077819-15491532)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1807927	GRCh37/hg19 17p12(chr17:14087788-15484858)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1807821	GRCh37/hg19 17p12(chr17:14083055-15483608)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1807816	GRCh37/hg19 17p12(chr17:14082945-15484858)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1807743	GRCh37/hg19 17p12(chr17:14087934-15484630)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1807700	GRCh37/hg19 17p12(chr17:14087934-15479940)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1803807	GRCh37/hg19 17p12(chr17:14098247-15475654)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1703548	GRCh37/hg19 17p12(chr17:14076989-15473312)	CDRT15, CDRT4 +6 more	Copy number loss	Hereditary liability to pressure palsies	GPathogenic
Select item 1684556	GRCh37/hg19 17p12(chr17:14093318-15476314)x3	CDRT15, CDRT4 +6 more	Copy number gain	See cases	GPathogenic
Select item 1684551	GRCh37/hg19 17p12(chr17:14111754-15442178)x3	CDRT15, CDRT4 +6 more	Copy number gain	See cases	GUncertain significance
Select item 1460285	NC_000017.10:g.(?_14139889)_(15142928_?)del	HS3ST3B1, PMP22 +1 more	Deletion	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 1339912	GRCh37/hg19 17p12-11.2(chr17:12524223-16047567)x1	ADORA2B, ARHGAP44 +18 more	Copy number loss	Hereditary liability to pressure palsies	Gnot provided
Select item 1330204	GRCh37/hg19 17p12(chr17:14096089-15492591)x3	CDRT15, CDRT4 +7 more	Copy number gain	Charcot-Marie-Tooth disease, type IA	GPathogenic
Select item 1328101	GRCh37/hg19 17p12(chr17:14073284-15442296)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1180510	GRCh37/hg19 17p12(chr17:14098196-15442500)x3	TEKT3, TVP23C +6 more	Copy number gain	not provided	GPathogenic
Select item 1047887	GRCh37/hg19 17p12(chr17:14100118-15455297)	CDRT15, CDRT4 +6 more	Copy number gain	Positional foot deformity +1 more	GPathogenic
Select item 983175	GRCh37/hg19 17p12(chr17:14111754-15442178)x1	TVP23C, TEKT3 +6 more	Copy number loss	See cases	GPathogenic
Select item 929831	GRCh37/hg19 17p12(chr17:14079630-15370444)x3	CDRT15, CDRT4 +5 more	Copy number gain	See cases	GPathogenic
Select item 929830	GRCh37/hg19 17p13.1-12(chr17:10493837-15099023)x1	ADPRM, ARHGAP44 +14 more	Copy number loss	See cases	GUncertain significance
Select item 815906	GRCh37/hg19 17p12(chr17:14195642-15545880)x3	CDRT4, PMP22 +6 more	Copy number gain	not provided	GPathogenic
Select item 666456	GRCh37/hg19 17p12(chr17:14111772-15442066)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 625729	GRCh37/hg19 17p12(chr17:14110451-15449097)	CDRT15, CDRT4 +6 more	Copy number loss	Hereditary liability to pressure palsies	GPathogenic
Select item 625728	GRCh37/hg19 17p12(chr17:14105874-15611546)	CDRT15, CDRT4 +9 more	Copy number gain	Charcot-Marie-Tooth disease, type IA	GPathogenic
Select item 625727	GRCh37/hg19 17p12(chr17:14104012-15551814)	CDRT15, CDRT4 +8 more	Copy number loss	Hereditary liability to pressure palsies	GPathogenic
Select item 625726	GRCh37/hg19 17p12(chr17:14104012-15422557)	CDRT15, CDRT4 +6 more	Copy number gain	Charcot-Marie-Tooth disease, type IA	GPathogenic
Select item 625725	GRCh37/hg19 17p12(chr17:14101029-15449627)	CDRT15, CDRT4 +6 more	Copy number loss	Hereditary liability to pressure palsies	GPathogenic
Select item 625724	GRCh37/hg19 17p12(chr17:14063251-15449627)	CDRT15, CDRT4 +6 more	Copy number gain	Charcot-Marie-Tooth disease, type IA	GPathogenic
Select item 625678	GRCh37/hg19 17p12(chr17:14128550-15422557)	CDRT15, CDRT4 +5 more	Copy number loss	Hereditary liability to pressure palsies	GPathogenic
Select item 598751	Single allele	CDRT15, CDRT4 +7 more	Duplication	Charcot-Marie-Tooth disease, type IA	GPathogenic
Select item 583564	NC_000017.10:g.(?_14139889)_(15406546_?)dup	TVP23C, TVP23C-CDRT4 +5 more	Duplication	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 564404	GRCh37/hg19 17p12(chr17:14087933-15484858)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic

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