"PreventionGenetics, part of Exact Sciences"[submitter] AND "NME8"[gen - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 1027035	NM_016616.5(NME8):c.23T>A (p.Val8Asp)	NME8 (V8D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6 +1 more	GUncertain significance
Select item 260760	NM_016616.5(NME8):c.33+15T>G	NME8	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 241112	NM_016616.5(NME8):c.57G>A (p.Leu19=)	NME8	Single nucleotide variant (synonymous variant)	not specified +1 more	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 164798	NM_016616.5(NME8):c.128G>A (p.Arg43Lys)	NME8 (R43K)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
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 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 +2 more	GLikely benign
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 6 +2 more	GBenign/Likely benign
Select item 226854	NM_016616.5(NME8):c.271-14C>T	NME8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 6 +1 more	GBenign
Select item 198568	NM_016616.5(NME8):c.271-3T>C	NME8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 6 +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 6 +1 more	GLikely benign
Select item 260761	NM_016616.5(NME8):c.388-3T>C	NME8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 6 +2 more	GLikely benign
Select item 260762	NM_016616.5(NME8):c.455-46C>T	NME8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 178810	NM_016616.5(NME8):c.528+11T>C	NME8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 260763	NM_016616.5(NME8):c.528+46_528+48del	NME8	Microsatellite (intron variant)	not specified	GLikely benign
Select item 260764	NM_016616.5(NME8):c.529-8A>C	NME8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 6 +1 more	GLikely benign
Select item 260765	NM_016616.5(NME8):c.594C>G (p.Val198=)	NME8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 961377	NM_016616.5(NME8):c.608G>A (p.Arg203Gln)	NME8 (R203Q)	Single nucleotide variant (missense variant)	NME8-related disorder +1 more	GUncertain significance
Select item 241113	NM_016616.5(NME8):c.610A>G (p.Ile204Val)	NME8 (I204V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
Select item 260766	NM_016616.5(NME8):c.621+48G>T	NME8	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 164801	NM_016616.5(NME8):c.622T>C (p.Cys208Arg)	NME8 (C208R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 3041591	NM_016616.5(NME8):c.645T>C (p.Ser215=)	NME8	Single nucleotide variant (synonymous variant)	NME8-related disorder	GLikely benign
Select item 260767	NM_016616.5(NME8):c.723A>G (p.Glu241=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 6 +1 more	GLikely benign
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 697805	NM_016616.5(NME8):c.747C>T (p.Asn249=)	NME8	Single nucleotide variant (synonymous variant)	NME8-related disorder +1 more	GBenign/Likely benign
Select item 260769	NM_016616.5(NME8):c.818+27T>C	NME8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 260771	NM_016616.5(NME8):c.994+19A>G	NME8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 provided +3 more	GBenign
Select item 2157173	NM_016616.5(NME8):c.1062G>A (p.Ser354=)	NME8	Single nucleotide variant (synonymous variant)	NME8-related disorder +1 more	GLikely benign
Select item 260753	NM_016616.5(NME8):c.1077A>G (p.Gln359=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 6 +1 more	GBenign/Likely benign
Select item 3056228	NM_016616.5(NME8):c.1089G>A (p.Lys363=)	NME8	Single nucleotide variant (synonymous variant)	NME8-related disorder	GLikely benign
Select item 164804	NM_016616.5(NME8):c.1140-10T>G	NME8	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 260754	NM_016616.5(NME8):c.1247+25A>G	NME8	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 260755	NM_016616.5(NME8):c.1247+34C>T	NME8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3256	NM_016616.5(NME8):c.1277T>A (p.Leu426Ter)	NME8 (L426*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 194663	NM_016616.5(NME8):c.1405A>C (p.Ile469Leu)	NME8 (I469L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 6 +2 more	GBenign/Likely 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 provided +2 more	GBenign
Select item 164805	NM_016616.5(NME8):c.1479A>T (p.Ile493=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +2 more	GBenign
Select item 260756	NM_016616.5(NME8):c.1544+22G>A	NME8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 6 +2 more	GBenign
Select item 260757	NM_016616.5(NME8):c.1545-15C>T	NME8	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 164806	NM_016616.5(NME8):c.1603T>C (p.Leu535=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 6 +3 more	GBenign
Select item 468993	NM_016616.5(NME8):c.1630G>A (p.Ala544Thr)	NME8 (A544T)	Single nucleotide variant (missense variant)	NME8-related disorder +2 more	GLikely benign
Select item 260758	NM_016616.5(NME8):c.1710C>T (p.Asn570=)	NME8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 6 +1 more	GLikely benign
Select item 3057906	NM_016616.5(NME8):c.*2G>A	NME8	Single nucleotide variant (3 prime UTR variant)	NME8-related disorder	GLikely benign

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Items: 51