NME8[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1248020	NM_016616.5(NME8):c.-7-76A>G	NME8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278890	NM_016616.5(NME8):c.-7-16_-7-13del	NME8	Microsatellite (intron variant)	not provided	GBenign
Select item 260752	NM_016616.5(NME8):c.-5G>T	NME8	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
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 1027035	NM_016616.5(NME8):c.23T>A (p.Val8Asp)	NME8 (V8D)	Single nucleotide variant (missense variant)	NME8-related disorder +1 more	GUncertain significance
Select item 2911271	NM_016616.5(NME8):c.24C>G (p.Val8=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 6	GLikely benign
Select item 536830	NM_016616.5(NME8):c.33+8T>G	NME8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 6	GLikely benign
Select item 260760	NM_016616.5(NME8):c.33+15T>G	NME8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 6 +1 more	GLikely benign
Select item 1530004	NM_016616.5(NME8):c.34-8C>T	NME8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 6	GLikely benign
Select item 2906058	NM_016616.5(NME8):c.36A>G (p.Thr12=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 6	GLikely benign
Select item 700320	NM_016616.5(NME8):c.51A>G (p.Gln17=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 963372	NM_016616.5(NME8):c.53G>A (p.Ser18Asn)	NME8 (S18N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6	GUncertain significance
Select item 241112	NM_016616.5(NME8):c.57G>A (p.Leu19=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 6 +1 more	GLikely benign
Select item 2765398	NM_016616.5(NME8):c.60G>C (p.Trp20Cys)	NME8 (W20C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6	GUncertain significance
Select item 468997	NM_016616.5(NME8):c.77A>G (p.Asn26Ser)	NME8 (N26S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6	GUncertain significance
Select item 2414540	NM_016616.5(NME8):c.82G>A (p.Gly28Ser)	NME8 (G28S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6	GUncertain significance
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 2745520	NM_016616.5(NME8):c.83G>A (p.Gly28Asp)	NME8 (G28D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6	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 2053685	NM_016616.5(NME8):c.85T>A (p.Leu29Ile)	NME8 (L29I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6	GUncertain significance
Select item 536824	NM_016616.5(NME8):c.88A>G (p.Thr30Ala)	NME8 (T30A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6	GUncertain significance
Select item 2024412	NM_016616.5(NME8):c.91+11T>A	NME8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 6	GLikely benign
Select item 2894451	NM_016616.5(NME8):c.91+15del	NME8	Deletion (intron variant)	Primary ciliary dyskinesia 6	GBenign
Select item 2165661	NM_016616.5(NME8):c.91+16G>A	NME8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 6	GLikely benign
Select item 260770	NM_016616.5(NME8):c.91+44G>A	NME8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2156047	NM_016616.5(NME8):c.92-19A>G	NME8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 6	GLikely benign
Select item 1532262	NM_016616.5(NME8):c.92-9A>G	NME8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 6	GLikely benign
Select item 2875106	NM_016616.5(NME8):c.97G>T (p.Asp33Tyr)	NME8 (D33Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6	GUncertain significance
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 2975159	NM_016616.5(NME8):c.115T>C (p.Cys39Arg)	NME8 (C39R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6	GUncertain significance
Select item 2968511	NM_016616.5(NME8):c.125G>T (p.Cys42Phe)	NME8 (C42F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6	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 1976584	NM_016616.5(NME8):c.133A>G (p.Met45Val)	NME8 (M45V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6	GUncertain significance
Select item 2992023	NM_016616.5(NME8):c.134T>C (p.Met45Thr)	NME8 (M45T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6	GUncertain significance
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 1493664	NM_016616.5(NME8):c.151A>T (p.Lys51Ter)	NME8 (K51*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 6	GUncertain significance
Select item 793765	NM_016616.5(NME8):c.154T>C (p.Leu52=)	NME8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712134	NM_016616.5(NME8):c.161_162insCTGAAAAAAT (p.Asn54_Glu55insTer)	NME8	Insertion (nonsense +1 more)	Primary ciliary dyskinesia 6	GUncertain significance
Select item 1403932	NM_016616.5(NME8):c.165A>T (p.Glu55Asp)	NME8 (E55D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6	GUncertain significance
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 1053075	NM_016616.5(NME8):c.171C>G (p.Asn57Lys)	NME8 (N57K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6	GUncertain significance
Select item 699003	NM_016616.5(NME8):c.171C>T (p.Asn57=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +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 836865	NM_016616.5(NME8):c.177_178delinsTA (p.Glu60Lys)	NME8 (E60K)	Indel (missense variant)	Primary ciliary dyskinesia 6	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 536822	NM_016616.5(NME8):c.198C>T (p.Val66=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 6	GUncertain significance
Select item 1277911	NM_016616.5(NME8):c.198+244A>G	NME8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241773	NM_016616.5(NME8):c.198+252A>G	NME8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279424	NM_016616.5(NME8):c.198+270T>C	NME8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249406	NM_016616.5(NME8):c.199-277A>C	NME8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174439	NM_016616.5(NME8):c.199-175G>A	NME8	Single nucleotide variant (intron variant)	not provided	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 699944	NM_016616.5(NME8):c.224T>C (p.Leu75Ser)	NME8 (L75S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6	GLikely benign
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 2862268	NM_016616.5(NME8):c.229C>A (p.Pro77Thr)	NME8 (P77T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6	GUncertain significance
Select item 2830231	NM_016616.5(NME8):c.240T>C (p.Asp80=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 6	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 643950	NM_016616.5(NME8):c.244T>A (p.Cys82Ser)	NME8 (C82S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6	GUncertain significance
Select item 2745433	NM_016616.5(NME8):c.250C>G (p.Pro84Ala)	NME8 (P84A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6	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 2867643	NM_016616.5(NME8):c.259_264del (p.Leu87_Phe88del)	NME8	Deletion (inframe_deletion)	Primary ciliary dyskinesia 6	GUncertain significance
Select item 2195652	NM_016616.5(NME8):c.258T>C (p.Phe86=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 6	GLikely benign
Select item 1634117	NM_016616.5(NME8):c.264T>C (p.Phe88=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 6	GLikely benign
Select item 2790153	NM_016616.5(NME8):c.267T>C (p.Ser89=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 6	GLikely benign
Select item 536827	NM_016616.5(NME8):c.270+5G>A	NME8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 6	GUncertain significance
Select item 698813	NM_016616.5(NME8):c.270+9A>G	NME8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 792527	NM_016616.5(NME8):c.270+10T>C	NME8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 6	GLikely benign
Select item 1252443	NM_016616.5(NME8):c.270+236C>T	NME8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281896	NM_016616.5(NME8):c.270+249T>C	NME8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262075	NM_016616.5(NME8):c.270+251A>C	NME8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244603	NM_016616.5(NME8):c.270+262G>A	NME8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241344	NM_016616.5(NME8):c.271-245T>C	NME8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271143	NM_016616.5(NME8):c.271-140C>T	NME8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260759	NM_016616.5(NME8):c.271-49G>A	NME8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 1551702	NM_016616.5(NME8):c.271-19G>C	NME8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 6	GLikely benign
Select item 2145733	NM_016616.5(NME8):c.271-15T>G	NME8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 6	GLikely benign
Select item 226854	NM_016616.5(NME8):c.271-14C>T	NME8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 379360	NM_016616.5(NME8):c.271-11T>A	NME8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 6 +1 more	GConflicting classifications of pathogenicity
Select item 743856	NM_016616.5(NME8):c.271-6T>C	NME8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1160927	NM_016616.5(NME8):c.271-5T>C	NME8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 6	GLikely benign
Select item 695681	NM_016616.5(NME8):c.271-4A>G	NME8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 6	GLikely 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 2164625	NM_016616.5(NME8):c.286G>A (p.Glu96Lys)	NME8 (E96K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6	GUncertain significance
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 2117264	NM_016616.5(NME8):c.301G>A (p.Ala101Thr)	NME8 (A101T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6	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 702969	NM_016616.5(NME8):c.312G>A (p.Pro104=)	NME8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1123738	NM_016616.5(NME8):c.315T>G (p.Leu105=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 6	GLikely benign
Select item 1719099	NM_016616.5(NME8):c.319A>G (p.Asn107Asp)	NME8 (N107D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6	GUncertain significance
Select item 2715442	NM_016616.5(NME8):c.327A>T (p.Lys109Asn)	NME8 (K109N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6	GUncertain significance
Select item 1996750	NM_016616.5(NME8):c.330T>G (p.Val110=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 6	GLikely benign
Select item 2976799	NM_016616.5(NME8):c.333T>G (p.Ile111Met)	NME8 (I111M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6	GUncertain significance
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

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