DMRTA1[gene] and "single gene"[properties] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2685345	GRCh37/hg19 9p21.3(chr9:22347471-22565408)x1	DMRTA1	Copy number loss	not provided	GUncertain significance
Select item 1340194	GRCh37/hg19 9p21.3(chr9:22199141-22783521)x3	DMRTA1	Copy number gain	not provided	GLikely benign
Select item 980350	GRCh37/hg19 9p21.3(chr9:22361810-22479131)x1	DMRTA1	Copy number loss	not provided	GUncertain significance
Select item 815250	GRCh37/hg19 9p21.3(chr9:22398465-22669166)x3	DMRTA1	Copy number gain	not provided	GLikely benign

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Items: 47