DMXL2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1279906	NM_001378457.1(DMXL2):c.*125C>T	DMXL2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 758214	NM_001378457.1(DMXL2):c.9174A>G (p.Leu3058=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1918724	NM_001378457.1(DMXL2):c.9172C>T (p.Leu3058=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1983025	NM_001378457.1(DMXL2):c.9167A>G (p.Asp3056Gly)	DMXL2 (D3034G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2102646	NM_001378457.1(DMXL2):c.9163_9165del (p.Leu3055del)	DMXL2 (L3033del +6 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2116673	NM_001378457.1(DMXL2):c.9164T>G (p.Leu3055Arg)	DMXL2 (L3055R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1430195	NM_001378457.1(DMXL2):c.9163C>T (p.Leu3055Phe)	DMXL2 (L2397F +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2021776	NM_001378457.1(DMXL2):c.9151C>T (p.Pro3051Ser)	DMXL2 (P2955S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 745168	NM_001378457.1(DMXL2):c.9150C>A (p.Ile3050=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1903118	NM_001378457.1(DMXL2):c.9134C>T (p.Pro3045Leu)	DMXL2 (P2387L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1912549	NM_001378457.1(DMXL2):c.9120A>G (p.Lys3040=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2527504	NM_001378457.1(DMXL2):c.9115C>G (p.Leu3039Val)	DMXL2 (L2381V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2413758	NM_001378457.1(DMXL2):c.9114G>A (p.Thr3038=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 743399	NM_001378457.1(DMXL2):c.9096C>T (p.Ser3032=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2852915	NM_001378457.1(DMXL2):c.9090C>T (p.Leu3030=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1933759	NM_001378457.1(DMXL2):c.9083A>G (p.Asn3028Ser)	DMXL2 (N2932S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2182851	NM_001378457.1(DMXL2):c.9080G>A (p.Gly3027Asp)	DMXL2 (G2332D +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2008078	NM_001378457.1(DMXL2):c.9080del (p.Gly3027fs)	DMXL2 (G2369fs +6 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2115673	NM_001378457.1(DMXL2):c.9063G>A (p.Gln3021=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2975671	NM_001378457.1(DMXL2):c.9042C>T (p.Asn3014=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3083285	NM_001378457.1(DMXL2):c.9031A>G (p.Ile3011Val)	DMXL2 (I2316V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2036445	NM_001378457.1(DMXL2):c.9027G>A (p.Gln3009=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1922467	NM_001378457.1(DMXL2):c.9027G>C (p.Gln3009His)	DMXL2 (Q2314H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2961412	NM_001378457.1(DMXL2):c.9021T>C (p.Ala3007=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1941517	NM_001378457.1(DMXL2):c.9015A>C (p.Glu3005Asp)	DMXL2 (E2909D +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2732864	NM_001378457.1(DMXL2):c.8994A>G (p.Leu2998=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2768142	NM_001378457.1(DMXL2):c.8968-3T>C	DMXL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1924886	NM_001378457.1(DMXL2):c.8968-6C>T	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2174041	NM_001378457.1(DMXL2):c.8968-36_8968-8dup	DMXL2	Duplication (intron variant)	not provided	GLikely benign
Select item 1277131	NM_001378457.1(DMXL2):c.8968-189G>A	DMXL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280117	NM_001378457.1(DMXL2):c.8749+124A>G	DMXL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1899768	NM_001378457.1(DMXL2):c.8749+15A>G	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874845	NM_001378457.1(DMXL2):c.8749+13C>G	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2018716	NM_001378457.1(DMXL2):c.8749+11G>T	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864818	NM_001378457.1(DMXL2):c.8749+10G>T	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1471942	NM_001378457.1(DMXL2):c.8746C>T (p.His2916Tyr)	DMXL2 (H2894Y +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2054321	NM_001378457.1(DMXL2):c.8740C>G (p.Leu2914Val)	DMXL2 (L2914V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2983422	NM_001378457.1(DMXL2):c.8730C>T (p.Pro2910=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2177508	NM_001378457.1(DMXL2):c.8719T>C (p.Leu2907=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1673461	NM_001378457.1(DMXL2):c.8718A>G (p.Thr2906=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2645339	NM_001378457.1(DMXL2):c.8701G>A (p.Val2901Ile)	DMXL2 (V2206I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 807261	NM_001378457.1(DMXL2):c.8701G>C (p.Val2901Leu)	DMXL2 (V2243L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1428186	NM_001378457.1(DMXL2):c.8697-6T>C	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990709	NM_001378457.1(DMXL2):c.8697-15G>T	DMXL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1539606	NM_001378457.1(DMXL2):c.8697-18dup	DMXL2	Duplication (intron variant)	not provided	GBenign
Select item 2972033	NM_001378457.1(DMXL2):c.8697-20T>C	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287438	NM_001378457.1(DMXL2):c.8696+137_8696+138del	DMXL2	Deletion (intron variant)	not provided	GBenign
Select item 2128159	NM_001378457.1(DMXL2):c.8696+17G>A	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006887	NM_001378457.1(DMXL2):c.8696+12G>A	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1602837	NM_001378457.1(DMXL2):c.8691C>T (p.Asp2897=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2983030	NM_001378457.1(DMXL2):c.8686A>G (p.Asn2896Asp)	DMXL2 (N2800D +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2006697	NM_001378457.1(DMXL2):c.8629A>G (p.Thr2877Ala)	DMXL2 (T2876A +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2820179	NM_001378457.1(DMXL2):c.8618A>G (p.His2873Arg)	DMXL2 (H2873R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1367509	NM_001378457.1(DMXL2):c.8605A>G (p.Ser2869Gly)	DMXL2 (S2848G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2095676	NM_001378457.1(DMXL2):c.8605-4G>T	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1905845	NM_001378457.1(DMXL2):c.8605-4G>A	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely 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 2831806	NM_001378457.1(DMXL2):c.8604+20C>T	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878824	NM_001378457.1(DMXL2):c.8604+15_8604+17del	DMXL2	Deletion (intron variant)	not provided	GLikely benign
Select item 1956982	NM_001378457.1(DMXL2):c.8604+16T>C	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1991116	NM_001378457.1(DMXL2):c.8604+15A>G	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2001090	NM_001378457.1(DMXL2):c.8604+13A>C	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2056740	NM_001378457.1(DMXL2):c.8604+11C>A	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2311099	NM_001378457.1(DMXL2):c.8587A>G (p.Asn2863Asp)	DMXL2 (N2168D +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2841859	NM_001378457.1(DMXL2):c.8586A>G (p.Ser2862=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2067765	NM_001378457.1(DMXL2):c.8573A>T (p.Asn2858Ile)	DMXL2 (N2163I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2991731	NM_001378457.1(DMXL2):c.8550T>G (p.Gly2850=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1614240	NM_001378457.1(DMXL2):c.8550T>A (p.Gly2850=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2743205	NM_001378457.1(DMXL2):c.8542G>T (p.Gly2848Ter)	DMXL2 (G2190* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2090158	NM_001378457.1(DMXL2):c.8541T>C (p.Asp2847=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1528013	NM_001378457.1(DMXL2):c.8538G>A (p.Ala2846=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2852920	NM_001378457.1(DMXL2):c.8527-2A>G	DMXL2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2743782	NM_001378457.1(DMXL2):c.8527-7C>G	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914076	NM_001378457.1(DMXL2):c.8527-8T>C	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1033358	NM_001378457.1(DMXL2):c.8527-15_8527-11dup	DMXL2	Duplication (intron variant)	Hearing loss, autosomal dominant 71	GUncertain significance
Select item 2967842	NM_001378457.1(DMXL2):c.8527-13A>G	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257136	NM_001378457.1(DMXL2):c.8527-181A>C	DMXL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242040	NM_001378457.1(DMXL2):c.8526+123T>G	DMXL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277873	NM_001378457.1(DMXL2):c.8526+117A>G	DMXL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2752579	NM_001378457.1(DMXL2):c.8526+15G>T	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1964716	NM_001378457.1(DMXL2):c.8526+13G>T	DMXL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631092	NM_001378457.1(DMXL2):c.8526+8T>C	DMXL2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2751554	NM_001378457.1(DMXL2):c.8526+2T>C	DMXL2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1954333	NM_001378457.1(DMXL2):c.8521A>C (p.Asn2841His)	DMXL2 (N2183H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1902436	NM_001378457.1(DMXL2):c.8502A>G (p.Leu2834=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1985351	NM_001378457.1(DMXL2):c.8500T>C (p.Leu2834=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1948647	NM_001378457.1(DMXL2):c.8487A>T (p.Ala2829=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1488527	NM_001378457.1(DMXL2):c.8486C>G (p.Ala2829Gly)	DMXL2 (A2808G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1959604	NM_001378457.1(DMXL2):c.8483A>G (p.Asn2828Ser)	DMXL2 (N2133S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1958282	NM_001378457.1(DMXL2):c.8483A>C (p.Asn2828Thr)	DMXL2 (N2828T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2987606	NM_001378457.1(DMXL2):c.8479G>A (p.Gly2827Ser)	DMXL2 (G2826S +6 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2960037	NM_001378457.1(DMXL2):c.8471G>A (p.Arg2824His)	DMXL2 (R2803H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2416401	NM_001378457.1(DMXL2):c.8470C>T (p.Arg2824Cys)	DMXL2 (R2129C +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1961955	NM_001378457.1(DMXL2):c.8457A>G (p.Gln2819=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1619276	NM_001378457.1(DMXL2):c.8448G>T (p.Arg2816=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1900323	NM_001378457.1(DMXL2):c.8447G>A (p.Arg2816Gln)	DMXL2 (R2720Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1484033	NM_001378457.1(DMXL2):c.8446C>T (p.Arg2816Trp)	DMXL2 (R2158W +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2065983	NM_001378457.1(DMXL2):c.8445G>A (p.Thr2815=)	DMXL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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