18592[HGNC] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 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 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
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 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 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 1325891	NM_001394966.1(NEK10):c.2505+22G>T	NEK10	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 44 +1 more	GBenign
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 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 2653633	NM_001394966.1(NEK10):c.2309C>T (p.Ala770Val)	NEK10 (A674V +4 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 2653634	NM_001394966.1(NEK10):c.2091-13184C>T	NEK10 (P6L)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
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 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 778065	NM_001394966.1(NEK10):c.1976A>G (p.Asn659Ser)	NEK10 (N659S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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 3252174	NM_001394966.1(NEK10):c.1537_1538delinsGC (p.Leu513Ala)	NEK10 (L484A +2 more)	Indel (missense variant)	not provided	GUncertain significance
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 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 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 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 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 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 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 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 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 769270	NM_001394966.1(NEK10):c.1202A>G (p.Asn401Ser)	NEK10 (N401S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1705354	NM_001394966.1(NEK10):c.1154dup (p.Ser386fs)	NEK10 (S357fs +1 more)	Duplication (frameshift variant)	Ciliary dyskinesia, primary, 44	GPathogenic
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 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 739246	NM_001394966.1(NEK10):c.1028+7A>G	NEK10	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 2510660	NM_001394966.1(NEK10):c.662G>A (p.Arg221Gln)	NEK10 (R221Q)	Single nucleotide variant (missense variant)	not specified	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 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 2270091	NM_001394966.1(NEK10):c.348T>G (p.Asn116Lys)	NEK10 (N116K)	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 3191726	NM_001394966.1(NEK10):c.307C>A (p.Arg103Ser)	NEK10 (R103S)	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 2390949	NM_001394966.1(NEK10):c.215G>A (p.Arg72Gln)	NEK10 (R72Q)	Single nucleotide variant (missense variant)	not specified	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 2653636	NM_001394966.1(NEK10):c.199G>A (p.Gly67Ser)	NEK10 (G67S)	Single nucleotide variant (missense variant)	not provided	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 2396538	NM_001394966.1(NEK10):c.130C>G (p.Gln44Glu)	NEK10 (Q44E)	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 2262941	NM_001394966.1(NEK10):c.73G>A (p.Asp25Asn)	NEK10 (D25N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
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 1809373	GRCh37/hg19 3p24.1(chr3:27020354-27440096)x3	NEK10, SLC4A7	Copy number gain	not provided	GUncertain significance
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 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 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

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Items: 82