DMWD[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 57097	GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1	MEIOSIN, MIR330 +115 more	Copy number loss	See cases	GPathogenic
Select item 2267912	NM_004943.2(DMWD):c.1942A>G (p.Ser648Gly)	DMWD (S648G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083193	NM_004943.2(DMWD):c.1922A>G (p.Glu641Gly)	DMWD (E641G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476453	NM_004943.2(DMWD):c.1918A>T (p.Thr640Ser)	DMWD (T640S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272447	NM_004943.2(DMWD):c.1912G>A (p.Glu638Lys)	DMWD (E638K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390353	NM_004943.2(DMWD):c.1906A>G (p.Thr636Ala)	DMWD (T636A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083192	NM_004943.2(DMWD):c.1873A>G (p.Ile625Val)	DMWD (I625V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297708	NM_004943.2(DMWD):c.1816C>T (p.Leu606Phe)	DMWD (L606F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237323	NM_004943.2(DMWD):c.1754C>T (p.Pro585Leu)	DMWD (P585L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272446	NM_004943.2(DMWD):c.1747C>G (p.Leu583Val)	DMWD (L583V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055409	NM_004943.2(DMWD):c.1745C>T (p.Ala582Val)	DMWD (A582V)	Single nucleotide variant (missense variant)	DMWD-related disorder	GBenign
Select item 3056601	NM_004943.2(DMWD):c.1677T>C (p.Ser559=)	DMWD	Single nucleotide variant (synonymous variant)	DMWD-related disorder	GBenign
Select item 3272452	NM_004943.2(DMWD):c.1625G>A (p.Arg542His)	DMWD (R542H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083191	NM_004943.2(DMWD):c.1624C>T (p.Arg542Cys)	DMWD (R542C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650130	NM_004943.2(DMWD):c.1620C>T (p.His540=)	DMWD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2331970	NM_004943.2(DMWD):c.1592G>A (p.Arg531Gln)	DMWD (R531Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042541	NM_004943.2(DMWD):c.1581A>G (p.Thr527=)	DMWD	Single nucleotide variant (synonymous variant)	DMWD-related disorder	GBenign
Select item 2508972	NM_004943.2(DMWD):c.1565G>A (p.Arg522His)	DMWD (R522H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346498	NM_004943.2(DMWD):c.1546A>G (p.Thr516Ala)	DMWD (T516A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371767	NM_004943.2(DMWD):c.1519G>C (p.Gly507Arg)	DMWD (G507R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083190	NM_004943.2(DMWD):c.1420A>T (p.Ser474Cys)	DMWD (S474C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512834	NM_004943.2(DMWD):c.1417G>A (p.Ala473Thr)	DMWD (A473T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057124	NM_004943.2(DMWD):c.1416C>T (p.Ala472=)	DMWD	Single nucleotide variant (synonymous variant)	DMWD-related disorder	GBenign
Select item 3053155	NM_004943.2(DMWD):c.1411C>T (p.Pro471Ser)	DMWD (P471S)	Single nucleotide variant (missense variant)	DMWD-related disorder	GBenign
Select item 2514891	NM_004943.2(DMWD):c.1406C>A (p.Thr469Lys)	DMWD (T469K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598829	NM_004943.2(DMWD):c.1379G>A (p.Arg460His)	DMWD (R460H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220373	NM_004943.2(DMWD):c.1378C>T (p.Arg460Cys)	DMWD (R460C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390174	NM_004943.2(DMWD):c.1375A>C (p.Thr459Pro)	DMWD (T459P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293443	NM_004943.2(DMWD):c.1373G>A (p.Arg458His)	DMWD (R458H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258819	NM_004943.2(DMWD):c.1373G>C (p.Arg458Pro)	DMWD (R458P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058897	NM_004943.2(DMWD):c.1362C>G (p.Pro454=)	DMWD	Single nucleotide variant (synonymous variant)	DMWD-related disorder	GBenign
Select item 3083189	NM_004943.2(DMWD):c.1354C>A (p.Pro452Thr)	DMWD (P452T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606654	NM_004943.2(DMWD):c.1348C>T (p.Leu450Phe)	DMWD (L450F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272448	NM_004943.2(DMWD):c.1345G>T (p.Val449Leu)	DMWD (V449L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259679	NM_004943.2(DMWD):c.1317G>C (p.Gln439His)	DMWD (Q439H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272449	NM_004943.2(DMWD):c.1274G>T (p.Gly425Val)	DMWD (G425V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055630	NM_004943.2(DMWD):c.1251G>A (p.Pro417=)	DMWD	Single nucleotide variant (synonymous variant)	DMWD-related disorder	GBenign
Select item 2381401	NM_004943.2(DMWD):c.1247C>T (p.Ala416Val)	DMWD (A416V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059273	NM_004943.2(DMWD):c.1245C>T (p.Gly415=)	DMWD	Single nucleotide variant (synonymous variant)	DMWD-related disorder	GBenign
Select item 2379299	NM_004943.2(DMWD):c.1223C>T (p.Ala408Val)	DMWD (A408V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602863	NM_004943.2(DMWD):c.1187G>A (p.Arg396Gln)	DMWD (R396Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272450	NM_004943.2(DMWD):c.1181G>C (p.Gly394Ala)	DMWD (G394A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083187	NM_004943.2(DMWD):c.1180G>A (p.Gly394Arg)	DMWD (G394R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272453	NM_004943.2(DMWD):c.1163C>G (p.Thr388Arg)	DMWD (T388R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083185	NM_004943.2(DMWD):c.1088G>A (p.Arg363Gln)	DMWD (R363Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083198	NM_004943.2(DMWD):c.915T>G (p.Asp305Glu)	DMWD (D305E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037576	NM_004943.2(DMWD):c.882C>G (p.Pro294=)	DMWD	Single nucleotide variant (synonymous variant)	DMWD-related disorder	GBenign
Select item 2523592	NM_004943.2(DMWD):c.752C>T (p.Pro251Leu)	DMWD (P251L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321485	NM_004943.2(DMWD):c.434G>C (p.Ser145Thr)	DMWD (S145T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083195	NM_004943.2(DMWD):c.368G>T (p.Gly123Val)	DMWD (G123V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205219	NM_004943.2(DMWD):c.364G>T (p.Gly122Trp)	DMWD (G122W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038433	NM_004943.2(DMWD):c.360C>T (p.Gly120=)	DMWD	Single nucleotide variant (synonymous variant)	DMWD-related disorder	GBenign
Select item 2617897	NM_004943.2(DMWD):c.331G>C (p.Glu111Gln)	DMWD (E111Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041481	NM_004943.2(DMWD):c.327C>T (p.Ala109=)	DMWD	Single nucleotide variant (synonymous variant)	DMWD-related disorder	GBenign
Select item 2468703	NM_004943.2(DMWD):c.326C>T (p.Ala109Val)	DMWD (A109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335439	NM_004943.2(DMWD):c.317G>A (p.Ser106Asn)	DMWD (S106N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204033	NM_004943.2(DMWD):c.257G>C (p.Gly86Ala)	DMWD, LOC130064728 (G86A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325274	NM_004943.2(DMWD):c.239C>T (p.Pro80Leu)	DMWD, LOC130064728 (P80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272451	NM_004943.2(DMWD):c.184C>G (p.Pro62Ala)	DMWD, LOC130064728 (P62A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083188	NM_004943.2(DMWD):c.132G>C (p.Arg44Ser)	DMWD, LOC130064728 (R44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083186	NM_004943.2(DMWD):c.109C>T (p.Pro37Ser)	DMWD, LOC130064728 (P37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083196	NM_004943.2(DMWD):c.43G>C (p.Ala15Pro)	DMWD, LOC130064728 (A15P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310376	NM_004943.2(DMWD):c.41C>T (p.Ala14Val)	DMWD, LOC130064728 (A14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229221	NM_004943.2(DMWD):c.28T>G (p.Ser10Ala)	DMWD, LOC130064728 (S10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236073	NM_004943.2(DMWD):c.20A>C (p.Glu7Ala)	DMWD, LOC130064728 (E7A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398272	NM_004943.2(DMWD):c.17C>G (p.Ala6Gly)	DMWD, LOC130064728 (A6G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493770	NM_004943.2(DMWD):c.16G>C (p.Ala6Pro)	DMWD, LOC130064728 (A6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083197	NM_004943.2(DMWD):c.8C>T (p.Ala3Val)	DMWD, LOC130064728 (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	OPA3, PPP1R37 +74 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 564591	GRCh37/hg19 19q13.32(chr19:46192402-46603824)x3	CCDC61, DMPK +14 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395473	GRCh37/hg19 19q13.32(chr19:46268077-46307777)x3	DMPK, DMWD +2 more	Copy number gain	See cases	GUncertain significance
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic

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Items: 78