"Ambry Genetics"[submitter] AND "NME8"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 260751	NM_016616.5(NME8):c.-3T>C	NME8	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 1780367	NM_016616.5(NME8):c.17G>A (p.Arg6Gln)	NME8 (R6Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 700320	NM_016616.5(NME8):c.51A>G (p.Gln17=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 6 +1 more	GLikely benign
Select item 409678	NM_016616.5(NME8):c.82G>T (p.Gly28Cys)	NME8 (G28C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6 +1 more	GUncertain significance
Select item 1509028	NM_016616.5(NME8):c.84C>T (p.Gly28=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 2314112	NM_016616.5(NME8):c.97G>C (p.Asp33His)	NME8 (D33H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 468992	NM_016616.5(NME8):c.126C>T (p.Cys42=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 6 +1 more	GBenign/Likely benign
Select item 164798	NM_016616.5(NME8):c.128G>A (p.Arg43Lys)	NME8 (R43K)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1771490	NM_016616.5(NME8):c.138A>G (p.Gln46=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3226918	NM_016616.5(NME8):c.144A>T (p.Leu48Phe)	NME8 (L48F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 701506	NM_016616.5(NME8):c.144A>G (p.Leu48=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 2625366	NM_016616.5(NME8):c.169A>G (p.Asn57Asp)	NME8 (N57D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 699003	NM_016616.5(NME8):c.171C>T (p.Asn57=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 6 +1 more	GLikely benign
Select item 1445830	NM_016616.5(NME8):c.172G>A (p.Glu58Lys)	NME8 (E58K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6 +1 more	GUncertain significance
Select item 164799	NM_016616.5(NME8):c.177C>T (p.Asp59=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 2487905	NM_016616.5(NME8):c.206C>G (p.Ala69Gly)	NME8 (A69G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 164800	NM_016616.5(NME8):c.219G>A (p.Val73=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 409677	NM_016616.5(NME8):c.226C>A (p.Gln76Lys)	NME8 (Q76K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6 +1 more	GLikely benign
Select item 3300156	NM_016616.5(NME8):c.244T>C (p.Cys82Arg)	NME8 (C82R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1792803	NM_016616.5(NME8):c.253G>A (p.Val85Ile)	NME8 (V85I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3257	NM_016616.4(NME8):c.271-27C>T	NME8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 198568	NM_016616.5(NME8):c.271-3T>C	NME8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 696939	NM_016616.5(NME8):c.285C>T (p.Ile95=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 2474729	NM_016616.5(NME8):c.299G>C (p.Gly100Ala)	NME8 (G100A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 565917	NM_016616.5(NME8):c.311C>T (p.Pro104Leu)	NME8 (P104L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1731350	NM_016616.5(NME8):c.342C>T (p.Ile114=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 1731534	NM_016616.5(NME8):c.344A>G (p.Asp115Gly)	NME8 (D115G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1019571	NM_016616.5(NME8):c.365C>G (p.Ala122Gly)	NME8 (A122G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1734552	NM_016616.5(NME8):c.374T>C (p.Met125Thr)	NME8 (M125T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 260761	NM_016616.5(NME8):c.388-3T>C	NME8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +2 more	GLikely benign
Select item 409674	NM_016616.5(NME8):c.401C>T (p.Pro134Leu)	NME8 (P134L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1738397	NM_016616.5(NME8):c.416A>T (p.Asp139Val)	NME8 (D139V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1082781	NM_016616.5(NME8):c.440C>T (p.Pro147Leu)	NME8 (P147L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 468995	NM_016616.5(NME8):c.454C>T (p.Gln152Ter)	NME8 (Q152*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 1741357	NM_016616.5(NME8):c.454+1G>A	NME8	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 3300157	NM_016616.5(NME8):c.478A>G (p.Ile160Val)	NME8 (I160V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1393708	NM_016616.5(NME8):c.485C>T (p.Pro162Leu)	NME8 (P162L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2448891	NM_016616.5(NME8):c.574C>T (p.Leu192Phe)	NME8 (L192F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3226919	NM_016616.5(NME8):c.587A>C (p.Gln196Pro)	NME8 (Q196P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2062323	NM_016616.5(NME8):c.596A>G (p.Asn199Ser)	NME8 (N199S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6 +1 more	GUncertain significance
Select item 1751434	NM_016616.5(NME8):c.607C>T (p.Arg203Ter)	NME8 (R203*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 6 +1 more	GUncertain significance
Select item 241113	NM_016616.5(NME8):c.610A>G (p.Ile204Val)	NME8 (I204V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1752034	NM_016616.5(NME8):c.617A>C (p.Asp206Ala)	NME8 (D206A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 164801	NM_016616.5(NME8):c.622T>C (p.Cys208Arg)	NME8 (C208R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 3200819	NM_016616.5(NME8):c.623G>A (p.Cys208Tyr)	NME8 (C208Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3300154	NM_016616.5(NME8):c.635_636del (p.Glu212fs)	NME8 (E212fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2601699	NM_016616.5(NME8):c.695A>G (p.Lys232Arg)	NME8 (K232R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1037079	NM_016616.5(NME8):c.706C>T (p.Pro236Ser)	NME8 (P236S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 260768	NM_016616.5(NME8):c.739G>A (p.Glu247Lys)	NME8 (E247K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GBenign
Select item 837987	NM_016616.5(NME8):c.743C>A (p.Pro248His)	NME8 (P248H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2217320	NM_016616.5(NME8):c.763C>A (p.Gln255Lys)	NME8 (Q255K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2256350	NM_016616.5(NME8):c.767C>A (p.Pro256His)	NME8 (P256H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1761323	NM_016616.5(NME8):c.793G>T (p.Gly265Ter)	NME8 (G265*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 6 +1 more	GUncertain significance
Select item 3226920	NM_016616.5(NME8):c.818+4T>A	NME8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 971566	NM_016616.5(NME8):c.829T>C (p.Tyr277His)	NME8 (Y277H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6 +1 more	GUncertain significance
Select item 164802	NM_016616.5(NME8):c.840A>G (p.Arg280=)	NME8	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 2521800	NM_016616.5(NME8):c.856C>G (p.Leu286Val)	NME8 (L286V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 645844	NM_016616.5(NME8):c.967C>A (p.Arg323=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 1784872	NM_016616.5(NME8):c.1006C>T (p.Arg336Cys)	NME8 (R336C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 226853	NM_016616.5(NME8):c.1007G>A (p.Arg336His)	NME8 (R336H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 164803	NM_016616.5(NME8):c.1013T>C (p.Ile338Thr)	NME8 (I338T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 3200817	NM_016616.5(NME8):c.1061C>T (p.Ser354Leu)	NME8 (S354L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1789278	NM_016616.5(NME8):c.1090G>T (p.Glu364Ter)	NME8 (E364*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 6 +1 more	GLikely benign
Select item 1485585	NM_016616.5(NME8):c.1092A>T (p.Glu364Asp)	NME8 (E364D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6 +1 more	GUncertain significance
Select item 863904	NM_016616.5(NME8):c.1169G>C (p.Arg390Thr)	NME8 (R390T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2886141	NM_016616.5(NME8):c.1173C>T (p.Asp391=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 1740471	NM_016616.5(NME8):c.1175A>G (p.Asn392Ser)	NME8 (N392S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2448890	NM_016616.5(NME8):c.1208C>G (p.Pro403Arg)	NME8 (P403R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2625374	NM_016616.5(NME8):c.1216G>T (p.Val406Phe)	NME8 (V406F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3200818	NM_016616.5(NME8):c.1265C>G (p.Ala422Gly)	NME8 (A422G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 536825	NM_016616.5(NME8):c.1269G>A (p.Met423Ile)	NME8 (M423I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 3256	NM_016616.5(NME8):c.1277T>A (p.Leu426Ter)	NME8 (L426*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1767817	NM_016616.5(NME8):c.1280C>T (p.Pro427Leu)	NME8 (P427L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 699357	NM_016616.5(NME8):c.1302C>T (p.Ser434=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 697082	NM_016616.5(NME8):c.1317C>T (p.Thr439=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 6 +1 more	GBenign/Likely benign
Select item 2721732	NM_016616.5(NME8):c.1319C>A (p.Ala440Asp)	NME8 (A440D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6 +1 more	GUncertain significance
Select item 2480997	NM_016616.5(NME8):c.1354A>G (p.Ser452Gly)	NME8 (S452G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1770750	NM_016616.5(NME8):c.1359_1362dup (p.Gly455fs)	NME8 (G455fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 194663	NM_016616.5(NME8):c.1405A>C (p.Ile469Leu)	NME8 (I469L)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2625796	NM_016616.5(NME8):c.1447G>T (p.Val483Leu)	NME8 (V483L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1053136	NM_016616.5(NME8):c.1459T>A (p.Phe487Ile)	NME8 (F487I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 415752	NM_016616.5(NME8):c.1467T>C (p.Thr489=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 6 +1 more	GLikely benign
Select item 221007	NM_016616.5(NME8):c.1478_1479delinsCT (p.Ile493Thr)	NME8 (I493T)	Indel (missense variant)	Primary ciliary dyskinesia 6 +2 more	GBenign
Select item 178811	NM_016616.5(NME8):c.1478T>C (p.Ile493Thr)	NME8 (I493T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 164805	NM_016616.5(NME8):c.1479A>T (p.Ile493=)	NME8	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1774203	NM_016616.5(NME8):c.1510G>A (p.Asp504Asn)	NME8 (D504N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1774313	NM_016616.5(NME8):c.1515T>C (p.Phe505=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 834901	NM_016616.5(NME8):c.1519A>G (p.Lys507Glu)	NME8 (K507E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1774767	NM_016616.5(NME8):c.1539A>T (p.Leu513Phe)	NME8 (L513F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1774891	NM_016616.5(NME8):c.1543G>A (p.Val515Met)	NME8 (V515M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6 +1 more	GUncertain significance
Select item 1775167	NM_016616.5(NME8):c.1556T>C (p.Met519Thr)	NME8 (M519T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2159050	NM_016616.5(NME8):c.1589C>T (p.Ala530Val)	NME8 (A530V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6 +1 more	GUncertain significance
Select item 696082	NM_016616.5(NME8):c.1600C>T (p.Arg534Ter)	NME8 (R534*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 567497	NM_016616.5(NME8):c.1601G>A (p.Arg534Gln)	NME8 (R534Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6 +1 more	GUncertain significance
Select item 164806	NM_016616.5(NME8):c.1603T>C (p.Leu535=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 1776615	NM_016616.5(NME8):c.1621C>T (p.Pro541Ser)	NME8 (P541S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1776627	NM_016616.5(NME8):c.1622C>A (p.Pro541Gln)	NME8 (P541Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 468993	NM_016616.5(NME8):c.1630G>A (p.Ala544Thr)	NME8 (A544T)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1777135	NM_016616.5(NME8):c.1645C>T (p.Pro549Ser)	NME8 (P549S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 468994	NM_016616.5(NME8):c.1648G>T (p.Asp550Tyr)	NME8 (D550Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GUncertain significance

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