"PreventionGenetics, part of Exact Sciences"[submitter] AND "DMXL2"[ge - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2629208	NM_001378457.1(DMXL2):c.9085C>T (p.Arg3029Trp)	DMXL2 (R2334W +6 more)	Single nucleotide variant (missense variant +1 more)	DMXL2-related disorder	GUncertain significance
Select item 1601206	NM_001378457.1(DMXL2):c.9044T>C (p.Ile3015Thr)	DMXL2 (I2320T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2157456	NM_001378457.1(DMXL2):c.8605-5C>T	DMXL2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1572100	NM_001378457.1(DMXL2):c.8340T>C (p.Leu2780=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3040886	NM_001378457.1(DMXL2):c.8286T>G (p.Pro2762=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	DMXL2-related disorder	GLikely benign
Select item 790695	NM_001378457.1(DMXL2):c.8169C>T (p.Ile2723=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	DMXL2-related disorder +1 more	GBenign
Select item 715828	NM_001378457.1(DMXL2):c.7809-6del	DMXL2	Deletion (intron variant)	DMXL2-related disorder +4 more	GBenign/Likely benign
Select item 722987	NM_001378457.1(DMXL2):c.7542A>G (p.Thr2514=)	DMXL2	Single nucleotide variant (synonymous variant +2 more)	DMXL2-related disorder +1 more	GBenign/Likely benign
Select item 2072789	NM_001378457.1(DMXL2):c.7139G>A (p.Arg2380Gln)	DMXL2 (R1743Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 777459	NM_001378457.1(DMXL2):c.7071G>A (p.Leu2357=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	DMXL2-related disorder +1 more	GBenign
Select item 1609694	NM_001378457.1(DMXL2):c.7047T>G (p.Val2349=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 756697	NM_001378457.1(DMXL2):c.6984T>C (p.Asn2328=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	DMXL2-related disorder +1 more	GBenign/Likely benign
Select item 1438191	NM_001378457.1(DMXL2):c.6946T>C (p.Ser2316Pro)	DMXL2 (S1642P +4 more)	Single nucleotide variant (missense variant +1 more)	DMXL2-related disorder +2 more	GUncertain significance
Select item 1674436	NM_001378457.1(DMXL2):c.6896G>A (p.Arg2299His)	DMXL2 (R1625H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2081629	NM_001378457.1(DMXL2):c.6672G>C (p.Leu2224Phe)	DMXL2 (L2144F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 713184	NM_001378457.1(DMXL2):c.6561A>G (p.Gln2187=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	DMXL2-related disorder +1 more	GBenign/Likely benign
Select item 1669062	NM_001378457.1(DMXL2):c.6408C>A (p.Ala2136=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1378755	NM_001378457.1(DMXL2):c.6376C>T (p.Arg2126Cys)	DMXL2 (R1453C +3 more)	Single nucleotide variant (missense variant +1 more)	DMXL2-related disorder +1 more	GUncertain significance
Select item 718955	NM_001378457.1(DMXL2):c.6166A>C (p.Arg2056=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	DMXL2-related disorder +1 more	GBenign/Likely benign
Select item 3057519	NM_001378457.1(DMXL2):c.6165A>G (p.Leu2055=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	DMXL2-related disorder	GLikely benign
Select item 720174	NM_001378457.1(DMXL2):c.6046G>A (p.Asp2016Asn)	DMXL2 (D1380N +3 more)	Single nucleotide variant (missense variant +1 more)	DMXL2-related disorder +1 more	GLikely benign
Select item 717399	NM_001378457.1(DMXL2):c.5976T>A (p.Asp1992Glu)	DMXL2 (D1356E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2890056	NM_001378457.1(DMXL2):c.5847C>G (p.Gly1949=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2022203	NM_001378457.1(DMXL2):c.5847C>T (p.Gly1949=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1592117	NM_001378457.1(DMXL2):c.5769G>A (p.Gln1923=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	DMXL2-related disorder +1 more	GBenign/Likely benign
Select item 719084	NM_001378457.1(DMXL2):c.5340A>T (p.Gln1780His)	DMXL2 (Q1144H +3 more)	Single nucleotide variant (missense variant +1 more)	DMXL2-related disorder +1 more	GBenign
Select item 721854	NM_001378457.1(DMXL2):c.5136T>G (p.Ala1712=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	DMXL2-related disorder +1 more	GBenign
Select item 3029452	NM_001378457.1(DMXL2):c.5098A>G (p.Asn1700Asp)	DMXL2 (N1027D +3 more)	Single nucleotide variant (missense variant +1 more)	DMXL2-related disorder	GUncertain significance
Select item 2629336	NM_001378457.1(DMXL2):c.4402T>G (p.Tyr1468Asp)	DMXL2 (Y1388D +1 more)	Single nucleotide variant (missense variant +2 more)	DMXL2-related disorder	GUncertain significance
Select item 1414899	NM_001378457.1(DMXL2):c.4380A>G (p.Thr1460=)	DMXL2	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 709279	NM_001378457.1(DMXL2):c.4187C>T (p.Ser1396Phe)	DMXL2 (S1396F +1 more)	Single nucleotide variant (missense variant +2 more)	DMXL2-related disorder +2 more	GLikely benign
Select item 2629125	NM_001378457.1(DMXL2):c.4159G>A (p.Ala1387Thr)	DMXL2 (A1307T +1 more)	Single nucleotide variant (missense variant +2 more)	DMXL2-related disorder	GUncertain significance
Select item 3061258	NM_001378457.1(DMXL2):c.4085G>C (p.Arg1362Pro)	DMXL2 (R1282P +1 more)	Single nucleotide variant (missense variant +2 more)	DMXL2-related disorder	GUncertain significance
Select item 599427	NM_001378457.1(DMXL2):c.3880G>A (p.Ala1294Thr)	DMXL2 (A1294T +1 more)	Single nucleotide variant (missense variant +2 more)	DMXL2-related disorder +2 more	GLikely benign
Select item 718602	NM_001378457.1(DMXL2):c.3624G>A (p.Lys1208=)	DMXL2	Single nucleotide variant (synonymous variant +2 more)	DMXL2-related disorder +1 more	GBenign/Likely benign
Select item 2197669	NM_001378457.1(DMXL2):c.3423C>T (p.Val1141=)	DMXL2	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1568341	NM_001378457.1(DMXL2):c.3420C>T (p.Ser1140=)	DMXL2	Single nucleotide variant (synonymous variant +2 more)	DMXL2-related disorder +1 more	GLikely benign
Select item 2634829	NM_001378457.1(DMXL2):c.3264G>C (p.Gln1088His)	DMXL2 (Q1008H +1 more)	Single nucleotide variant (missense variant +2 more)	DMXL2-related disorder	GUncertain significance
Select item 2635673	NM_001378457.1(DMXL2):c.2992+1G>A	DMXL2	Single nucleotide variant (intron variant +1 more)	DMXL2-related disorder	GUncertain significance
Select item 719530	NM_001378457.1(DMXL2):c.2866C>A (p.Pro956Thr)	DMXL2 (P956T +1 more)	Single nucleotide variant (missense variant +2 more)	DMXL2-related disorder +1 more	GBenign
Select item 1984856	NM_001378457.1(DMXL2):c.2576T>C (p.Ile859Thr)	DMXL2 (I859T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2170131	NM_001378457.1(DMXL2):c.2114A>C (p.Gln705Pro)	DMXL2 (Q625P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1549058	NM_001378457.1(DMXL2):c.2109G>A (p.Ser703=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 742008	NM_001378457.1(DMXL2):c.2041T>G (p.Cys681Gly)	DMXL2 (C681G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2189899	NM_001378457.1(DMXL2):c.1993T>C (p.Leu665=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1431632	NM_001378457.1(DMXL2):c.1787C>G (p.Ser596Cys)	DMXL2 (S516C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3045166	NM_001378457.1(DMXL2):c.1651C>G (p.Pro551Ala)	DMXL2 (P471A +1 more)	Single nucleotide variant (missense variant +1 more)	DMXL2-related disorder	GUncertain significance
Select item 2170132	NM_001378457.1(DMXL2):c.1634G>A (p.Arg545Gln)	DMXL2 (R465Q +1 more)	Single nucleotide variant (missense variant +1 more)	DMXL2-related disorder +1 more	GUncertain significance
Select item 2170133	NM_001378457.1(DMXL2):c.1478G>A (p.Arg493Gln)	DMXL2 (R413Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 711155	NM_001378457.1(DMXL2):c.1008C>T (p.Pro336=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	DMXL2-related disorder +1 more	GBenign
Select item 2635885	NM_001378457.1(DMXL2):c.979G>C (p.Val327Leu)	DMXL2 (V327L)	Single nucleotide variant (missense variant +1 more)	DMXL2-related disorder	GUncertain significance
Select item 2633435	NM_001378457.1(DMXL2):c.869G>T (p.Ser290Ile)	DMXL2 (S290I)	Single nucleotide variant (missense variant +1 more)	DMXL2-related disorder	GUncertain significance
Select item 2637306	NM_001378457.1(DMXL2):c.671T>A (p.Phe224Tyr)	DMXL2 (F224Y)	Single nucleotide variant (missense variant +1 more)	DMXL2-related disorder	GUncertain significance
Select item 730099	NM_001378457.1(DMXL2):c.364+8G>A	DMXL2	Single nucleotide variant (intron variant)	DMXL2-related disorder +1 more	GBenign/Likely benign
Select item 2053907	NM_001378457.1(DMXL2):c.88-6_88-3del	DMXL2	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 778996	NM_001378457.1(DMXL2):c.23C>G (p.Thr8Ser)	DMXL2 (T8S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2158490	NM_001378457.1(DMXL2):c.21C>T (p.Leu7=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign

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Items: 57