DMRTA1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001752, LOC130001753 +1005 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC130001810, LOC130001811 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	ACER2, ACO1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC113839555, LOC113839556 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001585, LOC130001586 +882 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	PUM3, QNG1 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	LOC130001517, LOC130001518 +484 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	ACER2, ADAMTSL1 +458 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001472, LOC130001473 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	LOC130001652, LOC130001653 +581 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	ACER2, ACO1 +979 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001648, LOC130001649 +898 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +538 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC130001569, LOC130001570 +897 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +893 more	Copy number gain	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	SLC1A1, SLC24A2 +461 more	Copy number gain	See cases	GPathogenic
Select item 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	CDKN2B, CDKN2B-AS1 +412 more	Copy number gain	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	LOC126860594, LOC126860595 +355 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	LOC130001690, LOC130001691 +585 more	Copy number gain	See cases	GPathogenic
Select item 59878	GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3	ACER2, ADAMTSL1 +243 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	LOC130001818, LOC130001819 +690 more	Copy number gain	See cases	GPathogenic
Select item 151162	GRCh38/hg38 9p22.1-21.1(chr9:19564275-28106622)x1	C9orf72, CAAP1 +136 more	Copy number loss	See cases	GPathogenic
Select item 545378	Single allele	CDKN2A, CDKN2A-AS1 +78 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 57361	GRCh38/hg38 9p21.3(chr9:21708372-22537070)x3	CDKN2A, CDKN2A-AS1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 523167	GRCh38/hg38 9p21.3(chr9:21939409-22706614)x0	LOC114022702, LOC126860595 +21 more	Copy number loss	Vascular endothelial growth factor (VEGF) inhibitor response	Gdrug response
Select item 59105	GRCh38/hg38 9p21.3(chr9:21985058-22809677)x1	LOC128772339, LOC130001606 +13 more	Copy number loss	See cases	GPathogenic
Select item 148870	GRCh38/hg38 9p21.3(chr9:22382291-23232148)x3	DMRTA1, LINC01239 +1 more	Copy number gain	See cases	GUncertain significance
Select item 147429	GRCh38/hg38 9p21.3(chr9:22416550-23232148)x3	DMRTA1, LINC01239 +1 more	Copy number gain	See cases	GUncertain significance
Select item 769751	NM_022160.3(DMRTA1):c.7C>T (p.Arg3Trp)	DMRTA1 (R3W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3083146	NM_022160.3(DMRTA1):c.58G>A (p.Ala20Thr)	DMRTA1 (A20T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299246	NM_022160.3(DMRTA1):c.80C>T (p.Ala27Val)	DMRTA1 (A27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359145	NM_022160.3(DMRTA1):c.94T>C (p.Ser32Pro)	DMRTA1 (S32P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396104	NM_022160.3(DMRTA1):c.119G>A (p.Gly40Glu)	DMRTA1 (G40E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785281	NM_022160.3(DMRTA1):c.119G>C (p.Gly40Ala)	DMRTA1 (G40A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2213937	NM_022160.3(DMRTA1):c.130C>T (p.Pro44Ser)	DMRTA1 (P44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514296	NM_022160.3(DMRTA1):c.155G>C (p.Ser52Thr)	DMRTA1 (S52T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294346	NM_022160.3(DMRTA1):c.223C>A (p.Pro75Thr)	DMRTA1 (P75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083143	NM_022160.3(DMRTA1):c.275C>T (p.Pro92Leu)	DMRTA1 (P92L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272419	NM_022160.3(DMRTA1):c.281C>T (p.Thr94Met)	DMRTA1 (T94M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240081	NM_022160.3(DMRTA1):c.326T>G (p.Leu109Arg)	DMRTA1 (L109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267382	NM_022160.3(DMRTA1):c.356G>C (p.Arg119Pro)	DMRTA1 (R119P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355305	NM_022160.3(DMRTA1):c.358G>A (p.Asp120Asn)	DMRTA1 (D120N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411086	NM_022160.3(DMRTA1):c.380C>T (p.Thr127Ile)	DMRTA1 (T127I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590297	NM_022160.3(DMRTA1):c.412G>A (p.Ala138Thr)	DMRTA1 (A138T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083144	NM_022160.3(DMRTA1):c.422C>T (p.Ala141Val)	DMRTA1 (A141V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529259	NM_022160.3(DMRTA1):c.457G>T (p.Ala153Ser)	DMRTA1 (A153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260524	NM_022160.3(DMRTA1):c.508G>A (p.Gly170Ser)	DMRTA1 (G170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274523	NM_022160.3(DMRTA1):c.529G>A (p.Gly177Ser)	DMRTA1 (G177S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3083145	NM_022160.3(DMRTA1):c.586C>A (p.Leu196Met)	DMRTA1 (L196M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272421	NM_022160.3(DMRTA1):c.691T>C (p.Ser231Pro)	DMRTA1 (S231P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272418	NM_022160.3(DMRTA1):c.790G>A (p.Gly264Arg)	DMRTA1 (G264R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2319762	NM_022160.3(DMRTA1):c.797C>T (p.Ser266Phe)	DMRTA1 (S266F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272422	NM_022160.3(DMRTA1):c.841C>T (p.His281Tyr)	DMRTA1 (H281Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344371	NM_022160.3(DMRTA1):c.874C>T (p.Pro292Ser)	DMRTA1 (P292S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377250	NM_022160.3(DMRTA1):c.954C>G (p.Ser318Arg)	DMRTA1 (S318R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083147	NM_022160.3(DMRTA1):c.962C>A (p.Thr321Lys)	DMRTA1 (T321K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554795	NM_022160.3(DMRTA1):c.974G>A (p.Arg325Lys)	DMRTA1 (R325K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609485	NM_022160.3(DMRTA1):c.1031G>A (p.Arg344Gln)	DMRTA1 (R344Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083138	NM_022160.3(DMRTA1):c.1117A>G (p.Asn373Asp)	DMRTA1 (N373D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207752	NM_022160.3(DMRTA1):c.1147G>C (p.Glu383Gln)	DMRTA1 (E383Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538886	NM_022160.3(DMRTA1):c.1157C>A (p.Ala386Asp)	DMRTA1 (A386D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473047	NM_022160.3(DMRTA1):c.1204A>G (p.Thr402Ala)	DMRTA1 (T402A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272420	NM_022160.3(DMRTA1):c.1207C>G (p.Leu403Val)	DMRTA1 (L403V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083140	NM_022160.3(DMRTA1):c.1319C>T (p.Ala440Val)	DMRTA1 (A440V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083141	NM_022160.3(DMRTA1):c.1322A>G (p.Tyr441Cys)	DMRTA1 (Y441C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212335	NM_022160.3(DMRTA1):c.1375G>T (p.Gly459Trp)	DMRTA1 (G459W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212336	NM_022160.3(DMRTA1):c.1376G>C (p.Gly459Ala)	DMRTA1 (G459A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327429	NM_022160.3(DMRTA1):c.1399C>T (p.Arg467Trp)	DMRTA1 (R467W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768286	NM_022160.3(DMRTA1):c.1404A>G (p.Pro468=)	DMRTA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3083142	NM_022160.3(DMRTA1):c.1448A>G (p.Tyr483Cys)	DMRTA1 (Y483C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224051	NM_022160.3(DMRTA1):c.1468A>G (p.Ile490Val)	DMRTA1 (I490V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2685345	GRCh37/hg19 9p21.3(chr9:22347471-22565408)x1	DMRTA1	Copy number loss	not provided	GUncertain significance
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1527516	GRCh37/hg19 9p21.3-21.1(chr9:22003967-30712948)	C9orf72, CAAP1 +13 more	Copy number loss	not specified	GUncertain significance
Select item 1527513	GRCh37/hg19 9p21.3(chr9:21608134-22490685)	CDKN2A, CDKN2B +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527495	GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)	ACER2, ACO1 +114 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACER2, ACO1 +205 more	Copy number gain	not specified	GPathogenic
Select item 1340194	GRCh37/hg19 9p21.3(chr9:22199141-22783521)x3	DMRTA1	Copy number gain	not provided	GLikely benign
Select item 980351	GRCh37/hg19 9p21.3(chr9:21391297-23423892)x3	CDKN2A, CDKN2B +7 more	Copy number gain	not provided	GUncertain significance
Select item 980350	GRCh37/hg19 9p21.3(chr9:22361810-22479131)x1	DMRTA1	Copy number loss	not provided	GUncertain significance

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