ClinVar for Gene (Select 29058) - ClinVar

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Links from Gene

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248273	NC_000020.10:g.(?_3190198)_(6760201_?)del	DNAAF9, FERMT1 +35 more	Deletion	Inosine triphosphatase deficiency	GPathogenic
Select item 3179205	NM_001009925.2(TMEM230):c.226G>C (p.Ala76Pro)	TMEM230 (A76P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179204	NM_001009925.2(TMEM230):c.208T>C (p.Tyr70His)	TMEM230 (Y70H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048152	NM_001330987.2(TMEM230):c.242G>A (p.Arg81Gln)	TMEM230 (R81Q)	Single nucleotide variant (missense variant)	TMEM230-related disorder	GLikely benign
Select item 3039663	NM_001330987.2(TMEM230):c.292A>C (p.Met98Leu)	TMEM230 (M98L)	Single nucleotide variant (missense variant)	TMEM230-related disorder	GLikely benign
Select item 3031742	NM_001009925.2(TMEM230):c.-16+1351_-16+1353dup	TMEM230	Duplication (intron variant)	TMEM230-related disorder	GLikely benign
Select item 3030938	NM_001009925.2(TMEM230):c.-16+1348_-16+1353dup	TMEM230	Duplication (intron variant)	TMEM230-related disorder	GLikely benign
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TMEM74B, TMX4 +114 more	Copy number gain	not provided	GPathogenic
Select item 2991752	NM_001009925.2(TMEM230):c.232C>A (p.Arg78=)	TMEM230	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2907620	NM_001009925.2(TMEM230):c.-6C>T	TMEM230	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2876316	NM_001009925.2(TMEM230):c.-68C>T	TMEM230	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2870453	NM_001009925.2(TMEM230):c.100-13A>G	TMEM230	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778542	NM_001009925.2(TMEM230):c.-56G>A	TMEM230	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2719409	NM_001009925.2(TMEM230):c.135C>A (p.Ala45=)	TMEM230	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695206	NM_001009925.2(TMEM230):c.189C>T (p.Gly63=)	TMEM230	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2446383	GRCh37/hg19 20p13-12.3(chr20:3034557-5524417)x1	MAVS, OXT +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 2423462	NC_000020.10:g.(?_5086814)_(5295015_?)dup	CDS2, PCNA +3 more	Duplication	not provided	GUncertain significance
Select item 2423461	NC_000020.10:g.(?_5081437)_(5093674_?)dup	TMEM230	Duplication	not provided	GUncertain significance
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	CDS2, CENPB +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 2344048	NM_001009925.2(TMEM230):c.-55G>A	TMEM230	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2338999	NM_001009925.2(TMEM230):c.292C>G (p.Arg98Gly)	TMEM230 (R98G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312112	NM_001009925.2(TMEM230):c.293G>T (p.Arg98Leu)	TMEM230 (R98L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2185645	NM_001009925.2(TMEM230):c.120G>A (p.Lys40=)	TMEM230	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2143553	NM_001009925.2(TMEM230):c.297C>T (p.Ile99=)	TMEM230	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2088969	NM_001009925.2(TMEM230):c.100-848_213del	TMEM230	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 2081822	NM_001009925.2(TMEM230):c.78C>G (p.Asp26Glu)	TMEM230 (D26E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2071795	NM_001009925.2(TMEM230):c.323G>A (p.Arg108His)	TMEM230 (R108H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2046219	NM_001009925.2(TMEM230):c.322C>T (p.Arg108Cys)	TMEM230 (R108C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2032928	NM_001009925.2(TMEM230):c.262C>G (p.Leu88Val)	TMEM230 (L88V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1958257	NM_001009925.2(TMEM230):c.185T>C (p.Ile62Thr)	TMEM230 (I62T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945464	NM_001009925.2(TMEM230):c.223-15T>G	TMEM230	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1937387	NM_001009925.2(TMEM230):c.-78A>G	TMEM230	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1937327	NM_001009925.2(TMEM230):c.130A>G (p.Lys44Glu)	TMEM230 (K44E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934622	NM_001009925.2(TMEM230):c.-81G>A	TMEM230	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1923195	NM_001009925.2(TMEM230):c.9G>A (p.Pro3=)	TMEM230	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1703638	GRCh37/hg19 20p13-12.2(chr20:3178539-11848383)	ADAM33, ADRA1D +47 more	Copy number loss	20p12.3 microdeletion syndrome	GPathogenic
Select item 1642711	NM_001009925.2(TMEM230):c.36C>T (p.Ile12=)	TMEM230	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1609381	NM_001009925.2(TMEM230):c.138C>T (p.Ile46=)	TMEM230	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1573085	NM_001009925.2(TMEM230):c.-15-4G>A	TMEM230	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551620	NM_001009925.2(TMEM230):c.2T>C (p.Met1Thr)	TMEM230 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1546381	NM_001009925.2(TMEM230):c.186A>G (p.Ile62Met)	TMEM230 (I62M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1546314	NM_001009925.2(TMEM230):c.222+10C>T	TMEM230	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1532917	NM_001009925.2(TMEM230):c.150T>G (p.Thr50=)	TMEM230	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507371	NM_001009925.2(TMEM230):c.14G>A (p.Arg5His)	TMEM230 (R5H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473299	NM_001009925.2(TMEM230):c.121A>C (p.Ile41Leu)	TMEM230 (I41L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1448364	NM_001009925.2(TMEM230):c.-5G>A	TMEM230	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1448099	NM_001009925.2(TMEM230):c.79G>A (p.Asp27Asn)	TMEM230 (D27N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1435559	NM_001009925.2(TMEM230):c.-83A>G	TMEM230	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1432566	NM_001009925.2(TMEM230):c.311C>T (p.Ser104Phe)	TMEM230 (S104F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1416127	NM_001009925.2(TMEM230):c.-39C>G	TMEM230	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1399798	NM_001009925.2(TMEM230):c.169G>A (p.Ala57Thr)	TMEM230 (A57T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1351162	NM_001009925.2(TMEM230):c.68C>T (p.Ser23Phe)	TMEM230 (S23F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1291916	NM_001009925.2(TMEM230):c.222+110_222+113del	TMEM230	Deletion (intron variant)	not provided	GBenign
Select item 1288935	NM_001009925.2(TMEM230):c.222+104_222+113del	TMEM230	Deletion (intron variant)	not provided	GBenign
Select item 1275019	NM_001009925.2(TMEM230):c.222+68GT[22]	TMEM230	Microsatellite (intron variant)	not provided	GBenign
Select item 1265859	NM_001009925.2(TMEM230):c.117T>A (p.Pro39=)	TMEM230	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1265588	NM_001009925.2(TMEM230):c.222+68GT[23]	TMEM230	Microsatellite (intron variant)	not provided	GBenign
Select item 1264957	NM_001009925.2(TMEM230):c.141A>G (p.Ala47=)	TMEM230	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1247220	NM_001009925.2(TMEM230):c.223-171G>C	TMEM230	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245471	NM_001009925.2(TMEM230):c.222+106_222+113del	TMEM230	Deletion (intron variant)	not provided	GBenign
Select item 1230424	NM_001009925.2(TMEM230):c.222+108_222+113del	TMEM230	Deletion (intron variant)	not provided	GBenign
Select item 1230102	NM_001009925.2(TMEM230):c.223-175del	TMEM230	Deletion (intron variant)	not provided	GBenign
Select item 1182099	NM_001009925.2(TMEM230):c.222+110_222+111del	TMEM230	Deletion (intron variant)	not provided	GBenign
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 564645	GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1	FERMT1, SPTLC3 +62 more	Copy number loss	not provided	GPathogenic
Select item 443885	GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1	ADAM33, ADISSP +58 more	Copy number loss	See cases	GPathogenic
Select item 443774	GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	ADAM33, ADISSP +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443248	GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3	ADAM33, ADISSP +80 more	Copy number gain	See cases	GUncertain significance
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 394208	GRCh37/hg19 20p13-12.1(chr20:4392930-12667768)x1	ANKEF1, BMP2 +28 more	Copy number loss	See cases	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic
Select item 243014	NM_001009925.2(TMEM230):c.233G>T (p.Arg78Leu)	TMEM230 (R78L)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 161490	NM_001009925.2(TMEM230):c.152T>C (p.Val51Ala)	TMEM230 (V51A)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 150823	GRCh38/hg38 20p13-12.3(chr20:4926195-5543771)x3	CDS2, LINC00654 +34 more	Copy number gain	See cases	GUncertain significance
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 148787	GRCh38/hg38 20p13-12.3(chr20:5039774-5645855)x3	CDS2, GPCPD1 +30 more	Copy number gain	See cases	GUncertain significance
Select item 148627	GRCh38/hg38 20p13-12.3(chr20:4343033-6911730)x1	BMP2, CASC20 +101 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 58966	GRCh38/hg38 20p13-12.3(chr20:5030412-5435054)x3	CDS2, LINC00658 +20 more	Copy number gain	See cases	GUncertain significance
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 95