ClinVar for Gene (Select 152110) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299208	NM_001394966.1(NEK10):c.983T>C (p.Ile328Thr)	NEK10 (I299T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299206	NM_001394966.1(NEK10):c.279T>A (p.Asn93Lys)	NEK10 (N93K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299205	NM_001394966.1(NEK10):c.1157C>T (p.Ser386Leu)	NEK10 (S357L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252174	NM_001394966.1(NEK10):c.1537_1538delinsGC (p.Leu513Ala)	NEK10 (L484A +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 3252173	NM_001394966.1(NEK10):c.2431C>T (p.Arg811Cys)	NEK10 (R123C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3235019	NM_001394966.1(NEK10):c.2754C>A (p.Ser918Arg)	NEK10 (S230R +4 more)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 44	GUncertain significance
Select item 3235018	NM_001394966.1(NEK10):c.382C>T (p.Pro128Ser)	NEK10 (P128S)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 44	GUncertain significance
Select item 3191761	NM_001394966.1(NEK10):c.986G>A (p.Arg329His)	NEK10 (R329H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191754	NM_001394966.1(NEK10):c.979G>A (p.Glu327Lys)	NEK10 (E298K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191748	NM_001394966.1(NEK10):c.944T>C (p.Leu315Pro)	NEK10 (L286P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191726	NM_001394966.1(NEK10):c.307C>A (p.Arg103Ser)	NEK10 (R103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191709	NM_001394966.1(NEK10):c.1616A>G (p.His539Arg)	NEK10 (H510R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3191703	NM_001394966.1(NEK10):c.1418A>C (p.His473Pro)	NEK10 (H444P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064479	NM_001394966.1(NEK10):c.2182C>T (p.Pro728Ser)	NEK10 (P40S +3 more)	Single nucleotide variant (missense variant +1 more)	Ciliary dyskinesia, primary, 44	GLikely pathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2653636	NM_001394966.1(NEK10):c.199G>A (p.Gly67Ser)	NEK10 (G67S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653635	NM_001394966.1(NEK10):c.1094G>A (p.Arg365Gln)	NEK10 (R336Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653634	NM_001394966.1(NEK10):c.2091-13184C>T	NEK10 (P6L)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2653633	NM_001394966.1(NEK10):c.2309C>T (p.Ala770Val)	NEK10 (A674V +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2634290	NM_001394966.1(NEK10):c.1702G>A (p.Val568Ile)	NEK10 (V539I +1 more)	Single nucleotide variant (missense variant +1 more)	NEK10-related disorder	GUncertain significance
Select item 2610494	NM_001394966.1(NEK10):c.214C>T (p.Arg72Trp)	NEK10 (R72W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610092	NM_001394966.1(NEK10):c.1487T>C (p.Leu496Pro)	NEK10 (L496P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603811	NM_001394966.1(NEK10):c.1310G>T (p.Cys437Phe)	NEK10 (C408F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2575401	NM_001394966.1(NEK10):c.3282C>A (p.Tyr1094Ter)	NEK10 (Y1055* +9 more)	Single nucleotide variant (nonsense)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2523940	NM_001394966.1(NEK10):c.829C>T (p.Leu277Phe)	NEK10 (L277F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517846	NM_001394966.1(NEK10):c.1311T>G (p.Cys437Trp)	NEK10 (C437W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512507	NM_001394966.1(NEK10):c.1687G>A (p.Asp563Asn)	NEK10 (D563N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510660	NM_001394966.1(NEK10):c.662G>A (p.Arg221Gln)	NEK10 (R221Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396538	NM_001394966.1(NEK10):c.130C>G (p.Gln44Glu)	NEK10 (Q44E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390949	NM_001394966.1(NEK10):c.215G>A (p.Arg72Gln)	NEK10 (R72Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387619	NM_001394966.1(NEK10):c.308G>A (p.Arg103His)	NEK10 (R103H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2382078	NM_001394966.1(NEK10):c.194G>T (p.Arg65Met)	NEK10 (R65M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370973	NM_001394966.1(NEK10):c.1217A>T (p.His406Leu)	NEK10 (H406L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346196	NM_001394966.1(NEK10):c.1247C>T (p.Thr416Ile)	NEK10 (T387I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344380	NM_001394966.1(NEK10):c.1363C>G (p.Leu455Val)	NEK10 (L455V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328858	NM_001394966.1(NEK10):c.985C>T (p.Arg329Cys)	NEK10 (R329C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316449	NM_001394966.1(NEK10):c.879A>G (p.Ile293Met)	NEK10 (I264M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298571	NM_001394966.1(NEK10):c.104T>G (p.Leu35Arg)	NEK10 (L35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285317	NM_001394966.1(NEK10):c.1679A>G (p.Asp560Gly)	NEK10 (D531G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280510	NM_001394966.1(NEK10):c.772A>G (p.Ile258Val)	NEK10 (I258V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270091	NM_001394966.1(NEK10):c.348T>G (p.Asn116Lys)	NEK10 (N116K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264986	NM_001394966.1(NEK10):c.1811T>C (p.Met604Thr)	NEK10 (M565T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262941	NM_001394966.1(NEK10):c.73G>A (p.Asp25Asn)	NEK10 (D25N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258086	NM_001394966.1(NEK10):c.965C>T (p.Pro322Leu)	NEK10 (P293L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237903	NM_001394966.1(NEK10):c.1693G>A (p.Asp565Asn)	NEK10 (D565N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809373	GRCh37/hg19 3p24.1(chr3:27020354-27440096)x3	NEK10, SLC4A7	Copy number gain	not provided	GUncertain significance
Select item 1705354	NM_001394966.1(NEK10):c.1154dup (p.Ser386fs)	NEK10 (S357fs +1 more)	Duplication (frameshift variant)	Ciliary dyskinesia, primary, 44	GPathogenic
Select item 1527002	GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140)	AZI2, CMC1 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 1325898	NM_001394966.1(NEK10):c.-37-9A>C	NEK10	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 44 +1 more	GBenign
Select item 1325897	NM_001394966.1(NEK10):c.1538T>C (p.Leu513Ser)	NEK10 (L484S +2 more)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 44 +1 more	GBenign
Select item 1325896	NM_001394966.1(NEK10):c.1674A>G (p.Gly558=)	NEK10	Single nucleotide variant (synonymous variant +1 more)	Ciliary dyskinesia, primary, 44 +1 more	GBenign
Select item 1325895	NM_001394966.1(NEK10):c.1791T>C (p.Asn597=)	NEK10	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 44 +1 more	GBenign
Select item 1325894	NM_001394966.1(NEK10):c.2010C>A (p.Thr670=)	NEK10	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 44 +1 more	GBenign
Select item 1325893	NM_001394966.1(NEK10):c.2061C>G (p.Thr687=)	NEK10	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 44 +1 more	GBenign
Select item 1325892	NM_001394966.1(NEK10):c.2247C>G (p.Val749=)	NEK10	Single nucleotide variant (synonymous variant +1 more)	Ciliary dyskinesia, primary, 44 +1 more	GBenign
Select item 1325891	NM_001394966.1(NEK10):c.2505+22G>T	NEK10	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 44 +1 more	GBenign
Select item 1325890	NM_001394966.1(NEK10):c.2869+140C>T	NEK10	Single nucleotide variant (synonymous variant +1 more)	Ciliary dyskinesia, primary, 44 +1 more	GBenign
Select item 1319176	NM_001394966.1(NEK10):c.1132A>G (p.Arg378Gly)	NEK10 (R349G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176779	NM_001394966.1(NEK10):c.405G>T (p.Val135=)	NEK10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 814431	GRCh37/hg19 3p24.1(chr3:26711697-27483497)x3	NEK10, LRRC3B +1 more	Copy number gain	not provided	GUncertain significance
Select item 814430	GRCh37/hg19 3p24.2-24.1(chr3:25901794-29520717)x1	AZI2, EOMES +6 more	Copy number loss	not provided	GUncertain significance
Select item 813281	NM_001394966.1(NEK10):c.2317C>T (p.Arg773Cys)	NEK10 (R85C +4 more)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 44	GPathogenic
Select item 813280	NM_001394966.1(NEK10):c.2243C>T (p.Pro748Leu)	NEK10 (P748L +3 more)	Single nucleotide variant (missense variant +1 more)	Ciliary dyskinesia, primary, 44	GPathogenic
Select item 813279	NM_001394966.1(NEK10):c.1869dup (p.His624fs)	NEK10 (H624fs +2 more)	Duplication (frameshift variant)	Ciliary dyskinesia, primary, 44	GPathogenic
Select item 813278	NM_001394966.1(NEK10):c.1230+5G>C	NEK10 (R412T)	Single nucleotide variant (missense variant +1 more)	Ciliary dyskinesia, primary, 44	GLikely pathogenic
Select item 778065	NM_001394966.1(NEK10):c.1976A>G (p.Asn659Ser)	NEK10 (N659S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769270	NM_001394966.1(NEK10):c.1202A>G (p.Asn401Ser)	NEK10 (N401S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 739246	NM_001394966.1(NEK10):c.1028+7A>G	NEK10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 562763	GRCh37/hg19 3p24.1(chr3:27020353-27440096)x3	SLC4A7, NEK10	Copy number gain	not provided	GLikely benign
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 82