285362[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154175	GRCh38/hg38 3p26.3-25.3(chr3:20213-9362037)x1	ARL8B, BHLHE40 +172 more	Copy number loss	See cases	GPathogenic
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 152808	GRCh38/hg38 3p26.3-25.3(chr3:32241-8165256)x3	ARL8B, BHLHE40 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 152256	GRCh38/hg38 3p26.3-25.3(chr3:32241-9066287)x1	ARL8B, BHLHE40 +162 more	Copy number loss	See cases	GPathogenic
Select item 151534	GRCh38/hg38 3p26.3-25.3(chr3:32241-9574994)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 150393	GRCh38/hg38 3p26.3-25.3(chr3:32241-9469506)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149555	GRCh38/hg38 3p26.3-26.1(chr3:32241-6065999)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149236	GRCh38/hg38 3p26.3-26.1(chr3:32241-7056717)x1	LOC129936092, LOC129936093 +134 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 144853	GRCh38/hg38 3p26.3-26.1(chr3:32241-5791120)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 154669	GRCh38/hg38 3p26.3-26.1(chr3:52266-4827490)x1	CHL1, CHL1-AS1 +72 more	Copy number loss	See cases	GPathogenic
Select item 154452	GRCh38/hg38 3p26.3-26.1(chr3:52266-5966084)x3	ARL8B, BHLHE40 +126 more	Copy number gain	See cases	GPathogenic
Select item 148015	GRCh38/hg38 3p26.3-25.3(chr3:52266-9450310)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 147496	GRCh38/hg38 3p26.3-26.1(chr3:52266-6277604)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 146281	GRCh38/hg38 3p26.3-26.1(chr3:52266-5138262)x1	ARL8B, BHLHE40 +102 more	Copy number loss	See cases	GPathogenic
Select item 57734	GRCh38/hg38 3p26.3-25.3(chr3:52266-8582037)x1	ARL8B, BHLHE40 +144 more	Copy number loss	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 150281	GRCh38/hg38 3p26.3-25.3(chr3:52747-8370373)x1	ARL8B, BHLHE40 +141 more	Copy number loss	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57738	GRCh38/hg38 3p26.3-25.3(chr3:63843-8258109)x1	ARL8B, BHLHE40 +140 more	Copy number loss	See cases	GPathogenic
Select item 57737	GRCh38/hg38 3p26.3-26.1(chr3:63843-4708786)x1	CHL1, CHL1-AS1 +66 more	Copy number loss	See cases	GPathogenic
Select item 57736	GRCh38/hg38 3p26.3-25.3(chr3:63843-9507969)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 57735	GRCh38/hg38 3p26.3-26.1(chr3:63843-6977502)x1	ARL8B, BHLHE40 +134 more	Copy number loss	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 57172	GRCh38/hg38 3p26.3-26.1(chr3:1984526-6852981)x1	ARL8B, BHLHE40 +120 more	Copy number loss	See cases	GPathogenic
Select item 153151	GRCh38/hg38 3p26.2-26.1(chr3:2891585-5911622)x1	ARL8B, BHLHE40 +107 more	Copy number loss	See cases	GPathogenic
Select item 147406	GRCh38/hg38 3p26.2-26.1(chr3:2920886-5861108)x1	ARL8B, BHLHE40 +107 more	Copy number loss	See cases	GPathogenic
Select item 153453	GRCh38/hg38 3p26.2-26.1(chr3:3383802-6623172)x3	ARL8B, BHLHE40 +92 more	Copy number gain	See cases	GUncertain significance
Select item 155403	GRCh38/hg38 3p26.2-26.1(chr3:3761804-4180761)x1	LOC100130207, LOC122889018 +5 more	Copy number loss	See cases	GUncertain significance
Select item 154790	GRCh38/hg38 3p26.2-26.1(chr3:3762936-4341698)x1	LOC100130207, LOC112935931 +8 more	Copy number loss	See cases	GUncertain significance
Select item 152469	GRCh38/hg38 3p26.1(chr3:4011644-4282551)x1	SUMF1	Copy number loss	See cases	GBenign
Select item 145288	GRCh38/hg38 3p26.1(chr3:4052583-4189675)x1	SUMF1	Copy number loss	See cases	GBenign
Select item 560157	Single allele	ITPR1, ITPR1-DT +18 more	Deletion	Spinocerebellar ataxia type 15/16	GPathogenic
Select item 145670	GRCh38/hg38 3p26.1(chr3:4149345-4282551)x1	SUMF1	Copy number loss	See cases	GBenign
Select item 149012	GRCh38/hg38 3p26.1(chr3:4262297-4463996)x1	LOC112935931, LOC121725127 +6 more	Copy number loss	See cases	GLikely benign
Select item 2532231	NM_006515.4(SETMAR):c.23C>G (p.Thr8Arg)	SETMAR, SUMF1 (T8R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405805	NM_006515.4(SETMAR):c.28C>T (p.Arg10Trp)	SETMAR, SUMF1 (R10W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348386	NM_006515.4(SETMAR):c.43G>A (p.Ala15Thr)	SETMAR, SUMF1 (A15T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605275	NM_006515.4(SETMAR):c.67G>A (p.Ala23Thr)	SETMAR, SUMF1 (A23T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160707	NM_006515.4(SETMAR):c.115G>A (p.Val39Met)	SETMAR, SUMF1 (V39M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2358953	NM_006515.4(SETMAR):c.116T>G (p.Val39Gly)	SETMAR, SUMF1 (W11G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160708	NM_006515.4(SETMAR):c.124T>G (p.Trp42Gly)	SETMAR, SUMF1 (W42G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2230214	NM_006515.4(SETMAR):c.151T>G (p.Phe51Val)	SETMAR, SUMF1 (F51V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2316333	NM_006515.4(SETMAR):c.192C>G (p.Asp64Glu)	SETMAR, SUMF1 (D64E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160709	NM_006515.4(SETMAR):c.220G>A (p.Gly74Arg)	SETMAR, SUMF1 (G74R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2608522	NM_006515.4(SETMAR):c.239C>T (p.Thr80Ile)	SETMAR, SUMF1 (T80I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317761	NM_006515.4(SETMAR):c.257C>T (p.Thr86Ile)	SETMAR, SUMF1 (T86I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2204532	NM_006515.4(SETMAR):c.433A>G (p.Lys145Glu)	SETMAR, SUMF1 (K145E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2401031	NM_006515.4(SETMAR):c.460C>T (p.Arg154Cys)	SETMAR, SUMF1 (R154C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2238235	NM_006515.4(SETMAR):c.479C>T (p.Pro160Leu)	SETMAR, SUMF1 (R50* +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2621831	NM_006515.4(SETMAR):c.497G>C (p.Cys166Ser)	SETMAR, SUMF1 (C166S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383894	NM_006515.4(SETMAR):c.533T>C (p.Val178Ala)	SETMAR, SUMF1 (V178A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317765	NM_006515.4(SETMAR):c.565G>A (p.Asp189Asn)	SETMAR, SUMF1 (D189N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524808	NM_006515.4(SETMAR):c.707G>A (p.Arg236Gln)	SETMAR, SUMF1 (R236Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317764	NM_006515.4(SETMAR):c.727A>G (p.Lys243Glu)	SETMAR, SUMF1 (K243E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270482	NM_006515.4(SETMAR):c.742G>A (p.Ala248Thr)	SETMAR, SUMF1 (A248T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536843	NM_006515.4(SETMAR):c.763G>A (p.Glu255Lys)	SETMAR, SUMF1 (E255K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317763	NM_006515.4(SETMAR):c.833T>G (p.Leu278Arg)	SETMAR, SUMF1 (L278R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376612	NM_006515.4(SETMAR):c.839A>T (p.His280Leu)	SETMAR, SUMF1 (H280L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653449	NM_006515.4(SETMAR):c.840T>C (p.His280=)	SETMAR, SUMF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2265458	NM_006515.4(SETMAR):c.842G>A (p.Gly281Glu)	SETMAR, SUMF1 (G281E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403619	NM_006515.4(SETMAR):c.899T>A (p.Phe300Tyr)	SETMAR, SUMF1 (F300Y)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2304213	NM_006515.4(SETMAR):c.922G>A (p.Val308Ile)	SETMAR, SUMF1 (V169I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328643	NM_006515.4(SETMAR):c.967A>C (p.Met323Leu)	SETMAR, SUMF1 (M323L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488782	NM_006515.4(SETMAR):c.1009T>A (p.Leu337Met)	SETMAR, SUMF1 (L81M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607395	NM_006515.4(SETMAR):c.1012A>G (p.Thr338Ala)	SETMAR, SUMF1 (T338A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653450	NM_006515.4(SETMAR):c.1227A>G (p.Pro409=)	SETMAR, SUMF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653451	NM_006515.4(SETMAR):c.1263C>T (p.Ile421=)	SETMAR, SUMF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 902953	NM_182760.4(SUMF1):c.*982G>A	SUMF1	Single nucleotide variant (3 prime UTR variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 345286	NM_182760.4(SUMF1):c.*976A>G	SUMF1	Single nucleotide variant (3 prime UTR variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 902954	NM_182760.4(SUMF1):c.*953C>T	SUMF1	Single nucleotide variant (3 prime UTR variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 345287	NM_182760.4(SUMF1):c.*949G>A	SUMF1	Single nucleotide variant (3 prime UTR variant)	Multiple sulfatase deficiency	GLikely benign
Select item 902956	NM_182760.4(SUMF1):c.*948C>G	SUMF1	Single nucleotide variant (3 prime UTR variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 902955	NM_182760.4(SUMF1):c.*948C>T	SUMF1	Single nucleotide variant (3 prime UTR variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 345288	NM_182760.4(SUMF1):c.*917G>T	SUMF1	Single nucleotide variant (3 prime UTR variant)	Multiple sulfatase deficiency	GBenign
Select item 345289	NM_182760.4(SUMF1):c.*874C>T	SUMF1	Single nucleotide variant (3 prime UTR variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 345290	NM_182760.4(SUMF1):c.*836C>G	SUMF1	Single nucleotide variant (3 prime UTR variant)	Multiple sulfatase deficiency	GLikely benign
Select item 900403	NM_182760.4(SUMF1):c.*828G>A	SUMF1	Single nucleotide variant (3 prime UTR variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 900404	NM_182760.4(SUMF1):c.*821G>A	SUMF1	Single nucleotide variant (3 prime UTR variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 900405	NM_182760.4(SUMF1):c.*820C>T	SUMF1	Single nucleotide variant (3 prime UTR variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 345291	NM_182760.4(SUMF1):c.*819G>A	SUMF1	Single nucleotide variant (3 prime UTR variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 345292	NM_182760.4(SUMF1):c.*809C>T	SUMF1	Single nucleotide variant (3 prime UTR variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 345293	NM_182760.4(SUMF1):c.*805C>T	SUMF1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 345294	NM_182760.4(SUMF1):c.*692A>G	SUMF1	Single nucleotide variant (3 prime UTR variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 345295	NM_182760.4(SUMF1):c.*675A>C	SUMF1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 345296	NM_182760.4(SUMF1):c.*639T>C	SUMF1	Single nucleotide variant (3 prime UTR variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 345297	NM_182760.4(SUMF1):c.*578C>G	SUMF1	Single nucleotide variant (3 prime UTR variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 900470	NM_182760.4(SUMF1):c.*568G>C	SUMF1	Single nucleotide variant (3 prime UTR variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 345298	NM_182760.4(SUMF1):c.*568G>A	SUMF1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 345299	NM_182760.4(SUMF1):c.*552T>G	SUMF1	Single nucleotide variant (3 prime UTR variant)	Multiple sulfatase deficiency	GBenign
Select item 345300	NM_182760.4(SUMF1):c.*548T>C	SUMF1	Single nucleotide variant (3 prime UTR variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 345301	NM_182760.4(SUMF1):c.*518T>C	SUMF1	Single nucleotide variant (3 prime UTR variant)	Multiple sulfatase deficiency	GBenign

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