C2CD6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
Select item 147402	GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1	ALS2, AOX1 +117 more	Copy number loss	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 3135974	NM_001168221.2(C2CD6):c.5410T>C (p.Ser1804Pro)	C2CD6 (S1804P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3135973	NM_001168221.2(C2CD6):c.5356T>A (p.Phe1786Ile)	C2CD6 (F589I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3067882	NM_001168221.2(C2CD6):c.5335C>T (p.Arg1779Ter)	C2CD6 (R1779* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Spermatogenic failure 68	GUncertain significance
Select item 3135971	NM_001168221.2(C2CD6):c.5278C>T (p.His1760Tyr)	C2CD6 (H563Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 161549	NM_001168221.2(C2CD6):c.5255T>C (p.Leu1752Ser)	C2CD6 (L1752S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 3135970	NM_001168221.2(C2CD6):c.5207T>A (p.Met1736Lys)	C2CD6 (M1736K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3135969	NM_001168221.2(C2CD6):c.5152A>G (p.Thr1718Ala)	C2CD6 (T1718A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135968	NM_001168221.2(C2CD6):c.5141T>C (p.Leu1714Pro)	C2CD6 (L1714P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558870	NM_001168221.2(C2CD6):c.5117T>A (p.Leu1706Gln)	C2CD6 (L1706Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558869	NM_001168221.2(C2CD6):c.5113C>A (p.His1705Asn)	C2CD6 (H1705N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135967	NM_001168221.2(C2CD6):c.5044G>A (p.Ala1682Thr)	C2CD6 (A1682T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552781	NM_001168221.2(C2CD6):c.5036A>G (p.Asp1679Gly)	C2CD6 (D1679G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135966	NM_001168221.2(C2CD6):c.4827G>T (p.Lys1609Asn)	C2CD6 (K1609N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135965	NM_001168221.2(C2CD6):c.4622A>C (p.Gln1541Pro)	C2CD6 (Q1541P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461594	NM_001168221.2(C2CD6):c.4498C>G (p.Gln1500Glu)	C2CD6 (Q1500E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135964	NM_001168221.2(C2CD6):c.4444C>T (p.His1482Tyr)	C2CD6 (H1482Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135963	NM_001168221.2(C2CD6):c.4436G>A (p.Arg1479Lys)	C2CD6 (R1479K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2601620	NM_001168221.2(C2CD6):c.4267T>G (p.Leu1423Val)	C2CD6 (L1423V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471128	NM_001168221.2(C2CD6):c.4114G>A (p.Asp1372Asn)	C2CD6 (D1372N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135961	NM_001168221.2(C2CD6):c.4090A>G (p.Ile1364Val)	C2CD6 (I1364V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135960	NM_001168221.2(C2CD6):c.4079C>T (p.Pro1360Leu)	C2CD6 (P1360L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135959	NM_001168221.2(C2CD6):c.4075A>G (p.Ile1359Val)	C2CD6 (I1359V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135958	NM_001168221.2(C2CD6):c.4015A>G (p.Met1339Val)	C2CD6 (M1339V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135957	NM_001168221.2(C2CD6):c.3979A>G (p.Ser1327Gly)	C2CD6 (S1327G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2651818	NM_001168221.2(C2CD6):c.3978G>C (p.Gln1326His)	C2CD6 (Q1326H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2596039	NM_001168221.2(C2CD6):c.3863G>A (p.Arg1288Lys)	C2CD6 (R1288K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135956	NM_001168221.2(C2CD6):c.3838G>A (p.Asp1280Asn)	C2CD6 (D1280N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135955	NM_001168221.2(C2CD6):c.3628T>C (p.Ser1210Pro)	C2CD6 (S1210P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2651819	NM_001168221.2(C2CD6):c.3624C>A (p.Ile1208=)	C2CD6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3135953	NM_001168221.2(C2CD6):c.3566C>T (p.Ala1189Val)	C2CD6 (A1189V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3135952	NM_001168221.2(C2CD6):c.3547T>C (p.Tyr1183His)	C2CD6 (Y1183H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135951	NM_001168221.2(C2CD6):c.3530A>C (p.Lys1177Thr)	C2CD6 (K1177T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593140	NM_001168221.2(C2CD6):c.3401G>A (p.Arg1134His)	C2CD6 (R1134H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135950	NM_001168221.2(C2CD6):c.3400C>T (p.Arg1134Cys)	C2CD6 (R1134C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135949	NM_001168221.2(C2CD6):c.3248A>G (p.Asn1083Ser)	C2CD6 (N1083S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135948	NM_001168221.2(C2CD6):c.3193G>A (p.Glu1065Lys)	C2CD6 (E1065K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135947	NM_001168221.2(C2CD6):c.3179T>A (p.Leu1060His)	C2CD6 (L1060H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2651820	NM_001168221.2(C2CD6):c.3129T>A (p.Asn1043Lys)	C2CD6 (N1043K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3135946	NM_001168221.2(C2CD6):c.3100A>T (p.Asn1034Tyr)	C2CD6 (N1034Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135945	NM_001168221.2(C2CD6):c.3038A>T (p.Asn1013Ile)	C2CD6 (N1013I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606561	NM_001168221.2(C2CD6):c.3038A>G (p.Asn1013Ser)	C2CD6 (N1013S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135942	NM_001168221.2(C2CD6):c.2986C>T (p.Pro996Ser)	C2CD6 (P996S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135941	NM_001168221.2(C2CD6):c.2947G>A (p.Glu983Lys)	C2CD6 (E983K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3135940	NM_001168221.2(C2CD6):c.2942G>C (p.Arg981Thr)	C2CD6 (R981T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135939	NM_001168221.2(C2CD6):c.2876T>C (p.Leu959Pro)	C2CD6 (L959P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135938	NM_001168221.2(C2CD6):c.2870C>A (p.Ser957Tyr)	C2CD6 (S957Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601794	NM_001168221.2(C2CD6):c.2812C>G (p.Leu938Val)	C2CD6 (L938V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512749	NM_001168221.2(C2CD6):c.2662C>T (p.Pro888Ser)	C2CD6 (P888S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135937	NM_001168221.2(C2CD6):c.2541C>G (p.Ser847Arg)	C2CD6 (S847R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494061	NM_001168221.2(C2CD6):c.2475C>A (p.Phe825Leu)	C2CD6 (F825L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3135936	NM_001168221.2(C2CD6):c.2468A>G (p.Lys823Arg)	C2CD6 (K823R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135935	NM_001168221.2(C2CD6):c.2453A>G (p.Glu818Gly)	C2CD6 (E818G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135932	NM_001168221.2(C2CD6):c.2023C>G (p.Leu675Val)	C2CD6 (L675V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135931	NM_001168221.2(C2CD6):c.1976C>G (p.Ser659Cys)	C2CD6 (S659C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135930	NM_001168221.2(C2CD6):c.1872G>T (p.Lys624Asn)	C2CD6 (K624N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135929	NM_001168221.2(C2CD6):c.1748C>T (p.Thr583Ile)	C2CD6 (T583I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135928	NM_001168221.2(C2CD6):c.1643T>C (p.Val548Ala)	C2CD6 (V548A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519193	NM_001168221.2(C2CD6):c.1632C>G (p.Asn544Lys)	C2CD6 (N544K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135927	NM_001168221.2(C2CD6):c.1612C>T (p.Pro538Ser)	C2CD6 (P538S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589235	NM_001168221.2(C2CD6):c.1522A>C (p.Lys508Gln)	C2CD6 (K393T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135925	NM_001168221.2(C2CD6):c.1370G>A (p.Gly457Asp)	C2CD6 (G457D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2651821	NM_001168221.2(C2CD6):c.1366G>T (p.Ala456Ser)	C2CD6 (A456S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2651822	NM_001168221.2(C2CD6):c.1317C>T (p.Pro439=)	C2CD6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3135924	NM_001168221.2(C2CD6):c.1280C>G (p.Ala427Gly)	C2CD6 (A427G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135923	NM_001168221.2(C2CD6):c.1235T>C (p.Leu412Pro)	C2CD6 (L412P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 58817	GRCh38/hg38 2q33.1(chr2:201537291-201896769)x1	ALS2, C2CD6 +11 more	Copy number loss	See cases	GPathogenic
Select item 3135978	NM_001168221.2(C2CD6):c.989T>C (p.Met330Thr)	C2CD6 (M330T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551027	NM_001168221.2(C2CD6):c.954A>T (p.Lys318Asn)	C2CD6 (K318N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135977	NM_001168221.2(C2CD6):c.929A>G (p.Gln310Arg)	C2CD6 (Q310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514117	NM_001168221.2(C2CD6):c.883G>T (p.Asp295Tyr)	C2CD6 (D295Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135976	NM_001168221.2(C2CD6):c.878C>A (p.Ser293Tyr)	C2CD6 (S293Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511245	NM_001168221.2(C2CD6):c.722A>G (p.Tyr241Cys)	C2CD6 (Y241C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135975	NM_001168221.2(C2CD6):c.674A>G (p.His225Arg)	C2CD6 (H225R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619025	NM_001168221.2(C2CD6):c.541C>T (p.Arg181Trp)	C2CD6 (R181W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135972	NM_001168221.2(C2CD6):c.527G>A (p.Arg176His)	C2CD6 (R176H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512897	NM_001168221.2(C2CD6):c.526C>T (p.Arg176Cys)	C2CD6 (R176C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135962	NM_001168221.2(C2CD6):c.441G>A (p.Met147Ile)	C2CD6 (M147I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135954	NM_001168221.2(C2CD6):c.356A>G (p.His119Arg)	C2CD6 (H119R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1345025	NM_001168221.2(C2CD6):c.338A>G (p.His113Arg)	C2CD6 (H113R)	Single nucleotide variant (missense variant)	Spermatogenic failure 68	GPathogenic
Select item 2590227	NM_001168221.2(C2CD6):c.301G>A (p.Val101Met)	C2CD6 (V101M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135934	NM_001168221.2(C2CD6):c.233T>A (p.Met78Lys)	C2CD6 (M78K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 584058	NC_000002.12:g.(?_201618900)_(201647825_?)del	LOC129935416, LOC129935417 +3 more	Deletion	Joubert syndrome 14	GPathogenic
Select item 3135933	NM_001168221.2(C2CD6):c.220C>T (p.Arg74Trp)	C2CD6 (R74W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603764	NM_001168221.2(C2CD6):c.160G>T (p.Ala54Ser)	C2CD6 (A54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467552	NM_001168221.2(C2CD6):c.160G>C (p.Ala54Pro)	C2CD6 (A54P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135926	NM_001168221.2(C2CD6):c.148T>C (p.Ser50Pro)	C2CD6 (S50P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614200	NM_001168221.2(C2CD6):c.5A>G (p.Glu2Gly)	C2CD6 (E2G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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