ClinVar for Gene (Select 284434) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3203448	NM_001007525.5(NWD1):c.961C>T (p.Arg321Trp)	NWD1 (R115W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203447	NM_001007525.5(NWD1):c.896G>A (p.Arg299His)	NWD1 (R93H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203446	NM_001007525.5(NWD1):c.875C>G (p.Ala292Gly)	NWD1 (A86G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203445	NM_001007525.5(NWD1):c.817G>A (p.Ala273Thr)	NWD1 (A67T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203444	NM_001007525.5(NWD1):c.59A>G (p.Gln20Arg)	NWD1 (Q20R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203443	NM_001007525.5(NWD1):c.588C>A (p.His196Gln)	NWD1 (H61Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203442	NM_001007525.5(NWD1):c.559G>A (p.Val187Ile)	NWD1 (V52I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203441	NM_001007525.5(NWD1):c.446G>A (p.Arg149Gln)	NWD1 (R149Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203440	NM_001007525.5(NWD1):c.445C>T (p.Arg149Trp)	NWD1 (R149W)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3203439	NM_001007525.5(NWD1):c.4292C>T (p.Pro1431Leu)	NWD1 (P1431L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203438	NM_001007525.5(NWD1):c.4177T>G (p.Cys1393Gly)	NWD1 (C1258G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203437	NM_001007525.5(NWD1):c.4109A>G (p.Asp1370Gly)	NWD1 (D1164G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203436	NM_001007525.5(NWD1):c.3815C>T (p.Thr1272Met)	NWD1 (T1137M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203435	NM_001007525.5(NWD1):c.3763T>C (p.Ser1255Pro)	NWD1 (S1049P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203434	NM_001007525.5(NWD1):c.3536G>A (p.Arg1179His)	NWD1 (R1044H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203433	NM_001007525.5(NWD1):c.3524G>C (p.Ser1175Thr)	NWD1 (S969T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203432	NM_001007525.5(NWD1):c.3520G>A (p.Val1174Met)	NWD1 (V1174M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203431	NM_001007525.5(NWD1):c.3508G>A (p.Val1170Ile)	NWD1 (V1035I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203430	NM_001007525.5(NWD1):c.3413C>T (p.Thr1138Ile)	NWD1 (T1003I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203429	NM_001007525.5(NWD1):c.334G>A (p.Glu112Lys)	NWD1 (E112K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203428	NM_001007525.5(NWD1):c.3335C>T (p.Ala1112Val)	NWD1 (A977V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203427	NM_001007525.5(NWD1):c.3301G>A (p.Ala1101Thr)	NWD1 (A966T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203426	NM_001007525.5(NWD1):c.326A>T (p.Gln109Leu)	NWD1 (Q109L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203425	NM_001007525.5(NWD1):c.3199G>A (p.Gly1067Ser)	NWD1 (G1067S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203424	NM_001007525.5(NWD1):c.3187G>A (p.Gly1063Arg)	NWD1 (G857R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203423	NM_001007525.5(NWD1):c.3154G>A (p.Val1052Ile)	NWD1 (V917I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203422	NM_001007525.5(NWD1):c.3140C>T (p.Thr1047Ile)	NWD1 (T1047I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203421	NM_001007525.5(NWD1):c.3113A>G (p.Gln1038Arg)	NWD1 (Q832R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203420	NM_001007525.5(NWD1):c.2944A>G (p.Asn982Asp)	NWD1 (N776D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203419	NM_001007525.5(NWD1):c.286G>T (p.Ala96Ser)	NWD1 (A96S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203418	NM_001007525.5(NWD1):c.2587A>C (p.Thr863Pro)	NWD1 (T728P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203416	NM_001007525.5(NWD1):c.230T>A (p.Leu77Gln)	NWD1 (L77Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203415	NM_001007525.5(NWD1):c.2141C>T (p.Pro714Leu)	NWD1 (P579L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203414	NM_001007525.5(NWD1):c.1987G>A (p.Val663Met)	NWD1 (V528M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203412	NM_001007525.5(NWD1):c.1774G>C (p.Gly592Arg)	NWD1 (G386R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203411	NM_001007525.5(NWD1):c.1630C>T (p.Arg544Trp)	NWD1 (R338W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203410	NM_001007525.5(NWD1):c.1618T>A (p.Phe540Ile)	NWD1 (F334I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203409	NM_001007525.5(NWD1):c.1480C>G (p.Pro494Ala)	NWD1 (P359A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203408	NM_001007525.5(NWD1):c.1346G>A (p.Arg449Gln)	NWD1 (R314Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 3062387	GRCh37/hg19 19p13.11(chr19:16857649-17423590)x3	NR2F6, NWD1 +13 more	Copy number gain	not specified	GUncertain significance
Select item 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2649520	NM_001007525.5(NWD1):c.3294C>T (p.Leu1098=)	NWD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649519	NM_001007525.5(NWD1):c.2016C>T (p.Ser672=)	NWD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649518	NM_001007525.5(NWD1):c.1688C>T (p.Thr563Met)	NWD1 (T357M +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2649517	NM_001007525.5(NWD1):c.984C>T (p.His328=)	NWD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649516	NM_001007525.5(NWD1):c.541C>T (p.Arg181Trp)	NWD1 (R181W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2649515	NM_001007525.5(NWD1):c.382dup (p.Glu128fs)	NWD1 (E128fs)	Duplication (frameshift variant +1 more)	not provided	GLikely benign
Select item 2615769	NM_001007525.5(NWD1):c.4108G>T (p.Asp1370Tyr)	NWD1 (D1164Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597272	NM_001007525.5(NWD1):c.349C>T (p.Pro117Ser)	NWD1 (P117S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595237	NM_001007525.5(NWD1):c.4127G>A (p.Cys1376Tyr)	NWD1 (C1241Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588406	NM_001007525.5(NWD1):c.1541C>T (p.Thr514Met)	NWD1 (T379M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570140	NM_001007525.5(NWD1):c.3914T>C (p.Met1305Thr)	NWD1 (M1170T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568439	NM_001007525.5(NWD1):c.3535C>T (p.Arg1179Cys)	NWD1 (R1179C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560126	NM_001007525.5(NWD1):c.2081A>G (p.Lys694Arg)	NWD1 (K488R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552107	NM_001007525.5(NWD1):c.3119T>C (p.Met1040Thr)	NWD1 (M1040T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547960	NM_001007525.5(NWD1):c.4174G>A (p.Ala1392Thr)	NWD1 (A1186T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2544064	NM_001007525.5(NWD1):c.838C>T (p.Arg280Cys)	NWD1 (R280C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538399	NM_001007525.5(NWD1):c.1397T>C (p.Leu466Pro)	NWD1 (L466P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533566	NM_001007525.5(NWD1):c.1375C>T (p.Pro459Ser)	NWD1 (P324S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522062	NM_001007525.5(NWD1):c.3902C>G (p.Ala1301Gly)	NWD1 (A1166G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520896	NM_001007525.5(NWD1):c.3616C>T (p.Arg1206Trp)	NWD1 (R1000W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520639	NM_001007525.5(NWD1):c.3937C>T (p.Arg1313Cys)	NWD1 (R1107C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519403	NM_001007525.5(NWD1):c.3830G>A (p.Gly1277Glu)	NWD1 (G1277E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518612	NM_001007525.5(NWD1):c.4286C>T (p.Thr1429Met)	NWD1 (T1294M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516632	NM_001007525.5(NWD1):c.1207C>G (p.Pro403Ala)	NWD1 (P197A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516552	NM_001007525.5(NWD1):c.2653A>G (p.Ile885Val)	NWD1 (I679V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2514887	NM_001007525.5(NWD1):c.3955G>A (p.Asp1319Asn)	NWD1 (D1113N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508774	NM_001007525.5(NWD1):c.106C>T (p.Arg36Trp)	NWD1 (R36W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491715	NM_001007525.5(NWD1):c.2222G>A (p.Arg741His)	NWD1 (R606H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486243	NM_001007525.5(NWD1):c.3599G>A (p.Ser1200Asn)	NWD1 (S1065N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477066	NM_001007525.5(NWD1):c.2618C>A (p.Ala873Asp)	NWD1 (A667D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470802	NM_001007525.5(NWD1):c.1744G>A (p.Val582Met)	NWD1 (V376M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464801	NM_001007525.5(NWD1):c.128A>G (p.His43Arg)	NWD1 (H43R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460870	NM_001007525.5(NWD1):c.241C>T (p.Arg81Trp)	NWD1 (R81W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456462	NM_001007525.5(NWD1):c.3988G>A (p.Gly1330Arg)	NWD1 (G1124R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 2408755	NM_001007525.5(NWD1):c.3541G>A (p.Gly1181Arg)	NWD1 (G1046R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408659	NM_001007525.5(NWD1):c.4229C>T (p.Ala1410Val)	NWD1 (A1204V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408607	NM_001007525.5(NWD1):c.530G>A (p.Ser177Asn)	NWD1 (S177N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397207	NM_001007525.5(NWD1):c.2936C>T (p.Ser979Leu)	NWD1 (S844L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395471	NM_001007525.5(NWD1):c.1489G>A (p.Gly497Arg)	NWD1 (G497R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383863	NM_001007525.5(NWD1):c.4136C>T (p.Ser1379Phe)	NWD1 (S1173F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380907	NM_001007525.5(NWD1):c.628C>T (p.Arg210Trp)	NWD1 (R210W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379418	NM_001007525.5(NWD1):c.3398C>T (p.Thr1133Met)	NWD1 (T927M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377170	NM_001007525.5(NWD1):c.2725C>T (p.His909Tyr)	NWD1 (H774Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376707	NM_001007525.5(NWD1):c.422T>C (p.Leu141Pro)	NWD1 (L141P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372113	NM_001007525.5(NWD1):c.1350G>C (p.Arg450Ser)	NWD1 (R450S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371417	NM_001007525.5(NWD1):c.2524G>A (p.Ala842Thr)	NWD1 (A707T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370375	NM_001007525.5(NWD1):c.1616C>T (p.Ala539Val)	NWD1 (A539V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365617	NM_001007525.5(NWD1):c.521G>A (p.Ser174Asn)	NWD1 (S39N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362817	NM_001007525.5(NWD1):c.2000G>A (p.Arg667His)	NWD1 (R667H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349712	NM_001007525.5(NWD1):c.2567C>T (p.Pro856Leu)	NWD1 (P856L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348381	NM_001007525.5(NWD1):c.1930C>T (p.Arg644Trp)	NWD1 (R509W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347115	NM_001007525.5(NWD1):c.358G>A (p.Val120Ile)	NWD1 (V120I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2345558	NM_001007525.5(NWD1):c.23G>A (p.Arg8Lys)	NWD1 (R8K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344088	NM_001007525.5(NWD1):c.3511G>A (p.Gly1171Arg)	NWD1 (G965R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342112	NM_001007525.5(NWD1):c.775G>A (p.Ala259Thr)	NWD1 (A124T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336419	NM_001007525.5(NWD1):c.779G>A (p.Cys260Tyr)	NWD1 (C260Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325987	NM_001007525.5(NWD1):c.257A>C (p.Glu86Ala)	NWD1 (E86A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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