ClinVar for Gene (Select 58524) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3272417	NM_021240.4(DMRT3):c.946C>T (p.His316Tyr)	DMRT3 (H316Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272416	NM_021240.4(DMRT3):c.1228C>G (p.Pro410Ala)	DMRT3 (P410A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272415	NM_021240.4(DMRT3):c.1106C>T (p.Pro369Leu)	DMRT3 (P369L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245347	NC_000009.11:g.(?_214977)_(2729727_?)dup	DMRT1, DMRT2 +7 more	Duplication	not provided	GUncertain significance
Select item 3239408	NM_021240.4(DMRT3):c.559A>G (p.Lys187Glu)	DMRT3 (K187E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3083137	NM_021240.4(DMRT3):c.992G>A (p.Gly331Glu)	DMRT3 (G331E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083135	NM_021240.4(DMRT3):c.548T>C (p.Val183Ala)	DMRT3 (V183A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083134	NM_021240.4(DMRT3):c.41C>G (p.Pro14Arg)	DMRT3 (P14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083133	NM_021240.4(DMRT3):c.373G>C (p.Ala125Pro)	DMRT3 (A125P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083132	NM_021240.4(DMRT3):c.364C>T (p.Arg122Cys)	DMRT3 (R122C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083131	NM_021240.4(DMRT3):c.347C>G (p.Ser116Trp)	DMRT3 (S116W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083130	NM_021240.4(DMRT3):c.176T>G (p.Ile59Ser)	DMRT3 (I59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083129	NM_021240.4(DMRT3):c.1346C>G (p.Ser449Cys)	DMRT3 (S449C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083128	NM_021240.4(DMRT3):c.1165G>A (p.Val389Ile)	DMRT3 (V389I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083126	NM_021240.4(DMRT3):c.1057C>T (p.Pro353Ser)	DMRT3 (P353S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063123	GRCh37/hg19 9p24.3-24.1(chr9:203862-8548307)x1	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 3063089	GRCh37/hg19 9p24.3-23(chr9:203861-9128400)x1	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 3063080	GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1	AK3, BRD10 +47 more	Copy number loss	not specified	GPathogenic
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 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 2685327	GRCh37/hg19 9p24.3(chr9:203862-1470291)x1	DMRT1, DMRT2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2671611	Single allele	AK3, BNC2 +49 more	Deletion	not provided	GPathogenic
Select item 2605911	NM_021240.4(DMRT3):c.751C>A (p.Pro251Thr)	DMRT3 (P251T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535848	NM_021240.4(DMRT3):c.137G>A (p.Arg46His)	DMRT3 (R46H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507472	NM_021240.4(DMRT3):c.523A>G (p.Thr175Ala)	DMRT3 (T175A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486832	NM_021240.4(DMRT3):c.799C>G (p.Leu267Val)	DMRT3 (L267V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473698	NM_021240.4(DMRT3):c.1113G>A (p.Met371Ile)	DMRT3 (M371I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426082	NC_000009.11:g.(?_676973)_(2729727_?)del	DMRT1, DMRT2 +5 more	Deletion	not provided	GUncertain significance
Select item 2412121	NM_021240.4(DMRT3):c.1318G>A (p.Asp440Asn)	DMRT3 (D440N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400841	NM_021240.4(DMRT3):c.44T>G (p.Val15Gly)	DMRT3 (V15G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393359	NM_021240.4(DMRT3):c.1372G>A (p.Glu458Lys)	DMRT3 (E458K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388991	NM_021240.4(DMRT3):c.224G>A (p.Arg75His)	DMRT3 (R75H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382799	NM_021240.4(DMRT3):c.394G>T (p.Ala132Ser)	DMRT3 (A132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377483	NM_021240.4(DMRT3):c.1363G>A (p.Asp455Asn)	DMRT3 (D455N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361795	NM_021240.4(DMRT3):c.1219T>C (p.Tyr407His)	DMRT3 (Y407H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346845	NM_021240.4(DMRT3):c.160A>G (p.Thr54Ala)	DMRT3 (T54A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341563	NM_021240.4(DMRT3):c.674C>T (p.Ala225Val)	DMRT3 (A225V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332057	NM_021240.4(DMRT3):c.1105C>T (p.Pro369Ser)	DMRT3 (P369S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309073	NM_021240.4(DMRT3):c.668G>T (p.Cys223Phe)	DMRT3 (C223F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297162	NM_021240.4(DMRT3):c.317C>A (p.Ala106Asp)	DMRT3 (A106D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296456	NM_021240.4(DMRT3):c.568T>C (p.Phe190Leu)	DMRT3 (F190L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295108	NM_021240.4(DMRT3):c.962A>G (p.Tyr321Cys)	DMRT3 (Y321C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293335	NM_021240.4(DMRT3):c.526G>A (p.Asp176Asn)	DMRT3 (D176N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272480	NM_021240.4(DMRT3):c.535A>C (p.Ser179Arg)	DMRT3 (S179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239796	NM_021240.4(DMRT3):c.356A>C (p.Gln119Pro)	DMRT3 (Q119P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2232303	NM_021240.4(DMRT3):c.130C>T (p.His44Tyr)	DMRT3 (H44Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223323	NM_021240.4(DMRT3):c.1285G>A (p.Ala429Thr)	DMRT3 (A429T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1807859	GRCh37/hg19 9p24.3-24.1(chr9:203862-5958840)x4	RIC1, RLN1 +29 more	Copy number gain	not provided	GLikely pathogenic
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 1708182	GRCh37/hg19 9p24.3-22.3(chr9:203861-15048247)x1	AK3, BRD10 +44 more	Copy number loss	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 1706515	GRCh37/hg19 9p24.3-23(chr9:203861-10283912)x1	AK3, BRD10 +37 more	Copy number loss	See cases	GPathogenic
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 1703682	GRCh37/hg19 9p24.3-24.1(chr9:203861-7959823)	AK3, BRD10 +36 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703680	GRCh37/hg19 9p24.3-23(chr9:203861-12570076)	IL33, RCL1 +37 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703678	GRCh37/hg19 9p24.3-23(chr9:203861-12127088)	AK3, BRD10 +37 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
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 1684649	Single allele	LOC130001502, LOC130001503 +233 more	Deletion	Chromosome 9p deletion syndrome	GPathogenic
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 1527485	GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)	AK3, BNC2 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527484	GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)	AK3, BRD10 +45 more	Copy number loss	not specified	GPathogenic
Select item 1527483	GRCh37/hg19 9p24.3-22.3(chr9:203861-14694074)	AK3, BRD10 +42 more	Copy number loss	not specified	GPathogenic
Select item 1527482	GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)	AK3, BRD10 +41 more	Copy number loss	not specified	GPathogenic
Select item 1527480	GRCh37/hg19 9p24.3-23(chr9:203861-11414732)	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527479	GRCh37/hg19 9p24.3-23(chr9:203861-9631665)	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527478	GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527477	GRCh37/hg19 9p24.3-24.1(chr9:203861-7759331)	AK3, BRD10 +35 more	Copy number loss	not specified	GPathogenic
Select item 1527476	GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152)	AK3, CD274 +28 more	Copy number loss	not specified	GPathogenic
Select item 1527475	GRCh37/hg19 9p24.3-24.2(chr9:203861-4342995)	DMRT1, DMRT2 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1527474	GRCh37/hg19 9p24.3-24.2(chr9:203861-3226591)	DMRT1, DMRT2 +9 more	Copy number loss	not specified	GPathogenic
Select item 1340682	GRCh37/hg19 9p24.3(chr9:336088-980057)x3	DMRT1, DMRT3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1340636	GRCh37/hg19 9p24.3(chr9:856283-1171202)x3	DMRT1, DMRT2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1047891	GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812)	PTPRD, PUM3 +52 more	Copy number loss	Trigonocephaly	GPathogenic
Select item 983185	GRCh37/hg19 9p24.3-24.2(chr9:204090-2430905)x1	DMRT1, DMRT2 +5 more	Copy number loss	See cases	GPathogenic
Select item 981212	GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1	TTC39B, TYRP1 +51 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 979258	GRCh37/hg19 9p24.3(chr9:860762-987460)x3	DMRT3, DMRT1	Copy number gain	not provided	GUncertain significance
Select item 979256	GRCh37/hg19 9p24.3(chr9:832244-1481793)x3	DMRT2, DMRT3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 979255	GRCh37/hg19 9p24.3(chr9:423689-1096481)x3	KANK1, DMRT2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 929761	NM_021240.4(DMRT3):c.1327C>T (p.Pro443Ser)	DMRT3 (P443S)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 815206	GRCh37/hg19 9p24.3(chr9:985978-1020552)x1	DMRT3	Copy number loss	not provided	GUncertain significance
Select item 815205	GRCh37/hg19 9p24.3(chr9:894913-1138636)x1	DMRT3, DMRT2 +1 more	Copy number loss	not provided	GPathogenic
Select item 815204	GRCh37/hg19 9p24.3(chr9:694452-1413398)x3	DMRT1, DMRT3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815193	GRCh37/hg19 9p24.3(chr9:277844-1337835)x3	DMRT1, KANK1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 815189	GRCh37/hg19 9p24.3-23(chr9:203861-14080419)x1	AK3, BRD10 +40 more	Copy number loss	not provided	GPathogenic
Select item 815188	GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1	DMAC1, ERMP1 +41 more	Copy number loss	not provided	GPathogenic
Select item 815187	GRCh37/hg19 9p24.3-23(chr9:203861-10666419)x1	SLC1A1, SMARCA2 +37 more	Copy number loss	not provided	GPathogenic
Select item 815186	GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1	LURAP1L, MIR101-2 +51 more	Copy number loss	not provided	GPathogenic
Select item 815183	GRCh37/hg19 9p24.3(chr9:203861-1288574)x3	DOCK8-AS1, DMRT2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 797482	NM_021240.4(DMRT3):c.1014C>T (p.Asp338=)	DMRT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787885	NM_021240.4(DMRT3):c.782A>C (p.Asn261Thr)	DMRT3 (N261T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787674	NM_021240.4(DMRT3):c.1126T>C (p.Leu376=)	DMRT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783539	NM_021240.4(DMRT3):c.1387T>C (p.Ser463Pro)	DMRT3 (S463P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782115	NM_021240.4(DMRT3):c.649C>T (p.Arg217Cys)	DMRT3 (R217C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 773226	NM_021240.4(DMRT3):c.1270G>A (p.Val424Ile)	DMRT3 (V424I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 757499	NM_021240.4(DMRT3):c.336C>T (p.Ala112=)	DMRT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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