ClinVar for Gene (Select 199953) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326921	NM_001130924.3(TMEM201):c.1886A>G (p.Glu629Gly)	TMEM201 (E629G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326920	NM_001130924.3(TMEM201):c.695C>T (p.Ala232Val)	TMEM201 (A232V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326919	NM_001130924.3(TMEM201):c.65T>C (p.Val22Ala)	LOC129929335, TMEM201 (V22A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3179120	NM_001130924.3(TMEM201):c.728G>T (p.Gly243Val)	TMEM201 (G243V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179119	NM_001130924.3(TMEM201):c.493C>T (p.Arg165Trp)	LOC126805611, TMEM201 (R165W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179118	NM_001130924.3(TMEM201):c.409G>A (p.Ala137Thr)	TMEM201 (A137T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179116	NM_001130924.3(TMEM201):c.1907G>A (p.Arg636His)	TMEM201 (R636H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179115	NM_001130924.3(TMEM201):c.1864A>G (p.Thr622Ala)	TMEM201 (T622A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179114	NM_001130924.3(TMEM201):c.185G>A (p.Arg62His)	TMEM201 (R62H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179112	NM_001130924.3(TMEM201):c.1681T>G (p.Ser561Ala)	TMEM201 (S561A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179111	NM_001130924.3(TMEM201):c.163A>G (p.Thr55Ala)	TMEM201 (T55A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179110	NM_001130924.3(TMEM201):c.155A>G (p.Asn52Ser)	TMEM201 (N52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179109	NM_001130924.3(TMEM201):c.1403A>G (p.Tyr468Cys)	TMEM201 (Y468C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179108	NM_001130924.3(TMEM201):c.1327T>A (p.Ser443Thr)	TMEM201 (S443T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179107	NM_001130924.3(TMEM201):c.1302C>A (p.Phe434Leu)	TMEM201 (F434L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179106	NM_001130924.3(TMEM201):c.1223C>T (p.Pro408Leu)	TMEM201 (P408L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638187	NM_001130924.3(TMEM201):c.42C>G (p.Ala14=)	LOC129929335, TMEM201	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2600028	NM_001130924.3(TMEM201):c.1168C>G (p.Pro390Ala)	TMEM201 (P390A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596010	NM_001130924.3(TMEM201):c.1714C>T (p.Pro572Ser)	TMEM201 (P572S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587988	NM_001130924.3(TMEM201):c.241G>A (p.Asp81Asn)	TMEM201 (D81N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540037	NM_001130924.3(TMEM201):c.1709T>C (p.Met570Thr)	TMEM201 (M570T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536918	NM_001130924.3(TMEM201):c.435G>T (p.Arg145Ser)	LOC126805611, TMEM201 (R145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528825	NM_001130924.3(TMEM201):c.870G>C (p.Trp290Cys)	TMEM201 (W290C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519104	NM_001130924.3(TMEM201):c.664T>C (p.Phe222Leu)	TMEM201 (F222L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464317	NM_001130924.3(TMEM201):c.1988A>G (p.Gln663Arg)	TMEM201 (Q663R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463391	NM_001130924.3(TMEM201):c.1157G>A (p.Arg386Gln)	TMEM201 (R386Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2426061	NC_000001.10:g.(?_9304994)_(12569078_?)dup	AGTRAP, ANGPTL7 +44 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2412131	NM_001130924.3(TMEM201):c.1315C>T (p.Arg439Trp)	TMEM201 (R439W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410840	NM_001130924.3(TMEM201):c.1351C>T (p.Arg451Trp)	TMEM201 (R451W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410223	NM_001130924.3(TMEM201):c.1954G>A (p.Ala652Thr)	TMEM201 (A652T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407979	NM_001130924.3(TMEM201):c.1748A>G (p.Asp583Gly)	TMEM201 (D583G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405297	NM_001130924.3(TMEM201):c.316G>A (p.Asp106Asn)	TMEM201 (D106N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400243	NM_001130924.3(TMEM201):c.1726C>G (p.Pro576Ala)	TMEM201 (P576A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396698	NM_001130924.3(TMEM201):c.1778A>C (p.Lys593Thr)	TMEM201 (K593T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385155	NM_001130924.3(TMEM201):c.694G>A (p.Ala232Thr)	TMEM201 (A232T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383231	NM_001130924.3(TMEM201):c.1571G>A (p.Arg524His)	TMEM201 (R524H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380072	NM_001130924.3(TMEM201):c.421C>T (p.Arg141Cys)	TMEM201 (R141C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369935	NM_001130924.3(TMEM201):c.1534G>A (p.Gly512Ser)	TMEM201 (G512S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362298	NM_001130924.3(TMEM201):c.1715C>T (p.Pro572Leu)	TMEM201 (P572L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359408	NM_001130924.3(TMEM201):c.1528G>T (p.Val510Leu)	TMEM201 (V510L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344340	NM_001130924.3(TMEM201):c.1880C>T (p.Ser627Leu)	TMEM201 (S627L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338140	NM_001130924.3(TMEM201):c.1595G>A (p.Arg532Gln)	TMEM201 (R532Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326666	NM_001130924.3(TMEM201):c.1729C>T (p.Arg577Trp)	TMEM201 (R577W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325767	NM_001130924.3(TMEM201):c.1750G>A (p.Val584Met)	TMEM201 (V584M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2313945	NM_001130924.3(TMEM201):c.794C>T (p.Thr265Ile)	TMEM201 (T265I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288784	NM_001130924.3(TMEM201):c.1928G>A (p.Arg643Gln)	TMEM201 (R643Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277977	NM_001130924.3(TMEM201):c.1825G>C (p.Asp609His)	TMEM201 (D609H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260154	NM_001130924.3(TMEM201):c.1141C>T (p.Arg381Trp)	TMEM201 (R381W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245752	NM_001130924.3(TMEM201):c.1952C>G (p.Ala651Gly)	TMEM201 (A651G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229919	NM_001130924.3(TMEM201):c.1912G>A (p.Gly638Ser)	TMEM201 (G638S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227210	NM_001130924.3(TMEM201):c.962G>A (p.Arg321Gln)	TMEM201 (R321Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222648	NM_001130924.3(TMEM201):c.494G>A (p.Arg165Gln)	LOC126805611, TMEM201 (R165Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220484	NM_001130924.3(TMEM201):c.716A>G (p.His239Arg)	TMEM201 (H239R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1807831	GRCh37/hg19 1p36.23-36.22(chr1:8473813-9852687)x1	CA6, CLSTN1 +12 more	Copy number loss	not provided	GLikely pathogenic
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1679800	NM_001130924.3(TMEM201):c.1178_1179del (p.Ser393fs)	TMEM201 (S393fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1527281	GRCh37/hg19 1p36.22(chr1:9616141-9971665)	CLSTN1, CTNNBIP1 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 785929	NM_001130924.3(TMEM201):c.1640C>A (p.Pro547His)	TMEM201 (P547H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775507	NM_001130924.3(TMEM201):c.1906C>T (p.Arg636Cys)	TMEM201 (R636C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775506	NM_001130924.3(TMEM201):c.795C>A (p.Thr265=)	TMEM201	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775505	NM_001130924.3(TMEM201):c.633G>A (p.Pro211=)	TMEM201	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775504	NM_001130924.3(TMEM201):c.255G>A (p.Pro85=)	TMEM201	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775503	NM_001130924.3(TMEM201):c.131C>T (p.Thr44Met)	TMEM201 (T44M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 728841	NM_001130924.3(TMEM201):c.600C>T (p.His200=)	LOC126805611, TMEM201	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724528	NM_001130924.3(TMEM201):c.429+7C>T	TMEM201	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	GPathogenic
Select item 635907	Single allele	ACAP3, ACOT7 +119 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 565071	GRCh37/hg19 1p36.23-36.22(chr1:7391956-9775929)x1	RERE, SLC45A1 +19 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 253358	GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3	AGTRAP, DISP3 +56 more	Copy number gain	See cases	GLikely pathogenic
Select item 252976	GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	ACAP3, ACOT7 +162 more	Copy number loss	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 155133	GRCh38/hg38 1p36.23-36.22(chr1:8819278-9634691)x3	CA6, ENO1 +69 more	Copy number gain	See cases	GUncertain significance
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 153432	GRCh38/hg38 1p36.22(chr1:9378480-10317912)x3	CLSTN1, CTNNBIP1 +69 more	Copy number gain	See cases	GUncertain significance
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 148048	GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)x3	CA6, CLSTN1 +107 more	Copy number gain	See cases	GUncertain significance
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic

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