CCT2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	BEST3, CAND1 +164 more	Copy number loss	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	LOC130008261, LOC130008262 +142 more	Copy number loss	See cases	GLikely pathogenic
Select item 1701726	Single allele	FRS2, LOC130008282 +14 more	Duplication	not provided	GUncertain significance
Select item 1015016	NM_006431.3(CCT2):c.3+6C>G	CCT2, LOC130008284	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1579354	NM_006431.3(CCT2):c.3+7C>T	CCT2, LOC130008284	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1110698	NM_006431.3(CCT2):c.3+9G>A	CCT2, LOC130008284	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667083	NM_006431.3(CCT2):c.3+13C>A	CCT2, LOC130008284	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655749	NM_006431.3(CCT2):c.3+16C>T	CCT2, LOC130008284	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2125542	NM_006431.3(CCT2):c.3+17T>G	CCT2, LOC130008284	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1637984	NM_006431.3(CCT2):c.3+20C>T	CCT2, LOC130008284	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2737823	NM_006431.3(CCT2):c.4-18C>T	CCT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1562690	NM_006431.3(CCT2):c.4-8C>T	CCT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1357162	NM_006431.3(CCT2):c.10C>T (p.Leu4Phe)	CCT2 (L4F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1498222	NM_006431.3(CCT2):c.14C>G (p.Ser5Cys)	CCT2 (S5C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1951888	NM_006431.3(CCT2):c.23C>T (p.Pro8Leu)	CCT2 (P8L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1497349	NM_006431.3(CCT2):c.23C>A (p.Pro8His)	CCT2 (P8H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2993891	NM_006431.3(CCT2):c.24T>G (p.Pro8=)	CCT2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2327534	NM_006431.3(CCT2):c.29A>C (p.Asn10Thr)	CCT2 (N10T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3005285	NM_006431.3(CCT2):c.33C>T (p.Ile11=)	CCT2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1167582	NM_006431.3(CCT2):c.36T>C (p.Phe12=)	CCT2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1400366	NM_006431.3(CCT2):c.68C>G (p.Thr23Arg)	CCT2 (T23R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1992649	NM_006431.3(CCT2):c.74G>A (p.Arg25His)	CCT2 (R25H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1523190	NM_006431.3(CCT2):c.74G>C (p.Arg25Pro)	CCT2 (R25P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1138208	NM_006431.3(CCT2):c.78+9T>C	CCT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1666829	NM_006431.3(CCT2):c.78+10G>C	CCT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1534920	NM_006431.3(CCT2):c.78+13C>T	CCT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1166858	NM_006431.3(CCT2):c.78+17G>C	CCT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1659616	NM_006431.3(CCT2):c.79-17C>T	CCT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2018115	NM_006431.3(CCT2):c.79-11T>G	CCT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2094005	NM_006431.3(CCT2):c.81T>A (p.Thr27=)	CCT2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2015379	NM_006431.3(CCT2):c.82T>G (p.Ser28Ala)	CCT2 (S28A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2537701	NM_006431.3(CCT2):c.83C>T (p.Ser28Phe)	CCT2 (S28F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 999208	NM_006431.3(CCT2):c.86T>C (p.Phe29Ser)	CCT2 (F29S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2125677	NM_006431.3(CCT2):c.92G>T (p.Gly31Val)	CCT2 (G31V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1114014	NM_006431.3(CCT2):c.99C>T (p.Ile33=)	CCT2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1504679	NM_006431.3(CCT2):c.100G>A (p.Ala34Thr)	CCT2 (A34T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2185365	NM_006431.3(CCT2):c.114G>C (p.Leu38Phe)	CCT2 (L38F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1352311	NM_006431.3(CCT2):c.115G>C (p.Val39Leu)	CCT2 (V39L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1967487	NM_006431.3(CCT2):c.117A>G (p.Val39=)	CCT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2767996	NM_006431.3(CCT2):c.122G>T (p.Ser41Ile)	CCT2 (S41I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2482259	NM_006431.3(CCT2):c.139G>A (p.Gly47Ser)	CCT2 (G47S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1135522	NM_006431.3(CCT2):c.144+10A>G	CCT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911441	NM_006431.3(CCT2):c.144+15A>G	CCT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1167453	NM_006431.3(CCT2):c.144+16A>G	CCT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1166049	NM_006431.3(CCT2):c.144+22_144+40del	CCT2	Deletion (intron variant)	not provided	GBenign
Select item 1169378	NM_006431.3(CCT2):c.145-19C>A	CCT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1468222	NM_006431.3(CCT2):c.145-16A>G	CCT2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1104107	NM_006431.3(CCT2):c.145-9T>C	CCT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1716508	NM_006431.3(CCT2):c.157C>G (p.Leu53Val)	CCT2 (L53V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2032676	NM_006431.3(CCT2):c.165T>C (p.Ser55=)	CCT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910351	NM_006431.3(CCT2):c.170G>T (p.Arg57Leu)	CCT2 (R10L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 954016	NM_006431.3(CCT2):c.170G>A (p.Arg57Gln)	CCT2 (R10Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770136	NM_006431.3(CCT2):c.172G>A (p.Asp58Asn)	CCT2 (D58N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926510	NM_006431.3(CCT2):c.173A>T (p.Asp58Val)	CCT2 (D11V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 938059	NM_006431.3(CCT2):c.175G>A (p.Ala59Thr)	CCT2 (A12T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354207	NM_006431.3(CCT2):c.178T>C (p.Ser60Pro)	CCT2 (S13P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944378	NM_006431.3(CCT2):c.183T>G (p.Leu61=)	CCT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1045782	NM_006431.3(CCT2):c.184A>G (p.Met62Val)	CCT2 (M15V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926570	NM_006431.3(CCT2):c.185T>C (p.Met62Thr)	CCT2 (M62T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1010745	NM_006431.3(CCT2):c.194A>G (p.Asn65Ser)	CCT2 (N18S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952240	NM_006431.3(CCT2):c.205A>G (p.Thr69Ala)	CCT2 (T69A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1114329	NM_006431.3(CCT2):c.207T>C (p.Thr69=)	CCT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1394425	NM_006431.3(CCT2):c.211C>G (p.Leu71Val)	CCT2 (L71V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2034561	NM_006431.3(CCT2):c.219C>T (p.Asn73=)	CCT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1042190	NM_006431.3(CCT2):c.220A>T (p.Ile74Phe)	CCT2 (I74F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1393529	NM_006431.3(CCT2):c.221T>C (p.Ile74Thr)	CCT2 (I74T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1995453	NM_006431.3(CCT2):c.226G>A (p.Val76Ile)	CCT2 (V29I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3140162	NM_006431.3(CCT2):c.233A>G (p.Asn78Ser)	CCT2 (N78S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2717137	NM_006431.3(CCT2):c.240A>G (p.Ala80=)	CCT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1614835	NM_006431.3(CCT2):c.243T>G (p.Ala81=)	CCT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1531351	NM_006431.3(CCT2):c.256+11A>G	CCT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1155515	NM_006431.3(CCT2):c.256+18T>C	CCT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1602303	NM_006431.3(CCT2):c.257-18A>G	CCT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1112092	NM_006431.3(CCT2):c.257-18A>T	CCT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649780	NM_006431.3(CCT2):c.257-15A>G	CCT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1610439	NM_006431.3(CCT2):c.257-4C>T	CCT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2124593	NM_006431.3(CCT2):c.257-3T>G	CCT2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1484272	NM_006431.3(CCT2):c.259A>G (p.Met87Val)	CCT2 (M40V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 835634	NM_006431.3(CCT2):c.260T>C (p.Met87Thr)	CCT2 (M87T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 842316	NM_006431.3(CCT2):c.265A>G (p.Arg89Gly)	CCT2 (R42G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1119800	NM_006431.3(CCT2):c.294C>T (p.Gly98=)	CCT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1161211	NM_006431.3(CCT2):c.309C>T (p.Thr103=)	CCT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1392423	NM_006431.3(CCT2):c.310G>A (p.Val104Ile)	CCT2 (V104I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1088781	NM_006431.3(CCT2):c.330A>G (p.Leu110=)	CCT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 953899	NM_006431.3(CCT2):c.333+8C>T	CCT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1413056	NM_006431.3(CCT2):c.361A>G (p.Ile121Val)	CCT2 (I121V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962542	NM_006431.3(CCT2):c.363T>C (p.Ile121=)	CCT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1639126	NM_006431.3(CCT2):c.369A>G (p.Pro123=)	CCT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1047518	NM_006431.3(CCT2):c.372G>C (p.Gln124His)	CCT2 (Q77H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2259419	NM_006431.3(CCT2):c.374C>T (p.Thr125Ile)	CCT2 (T125I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2118814	NM_006431.3(CCT2):c.376A>G (p.Ile126Val)	CCT2 (I126V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016084	NM_006431.3(CCT2):c.379A>G (p.Ile127Val)	CCT2 (I127V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982515	NM_006431.3(CCT2):c.382G>A (p.Ala128Thr)	CCT2 (A128T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1421947	NM_006431.3(CCT2):c.383C>T (p.Ala128Val)	CCT2 (A128V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093577	NM_006431.3(CCT2):c.384G>C (p.Ala128=)	CCT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1008495	NM_006431.3(CCT2):c.394G>A (p.Glu132Lys)	CCT2 (E132K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1017731	NM_006431.3(CCT2):c.398C>T (p.Ala133Val)	CCT2 (A133V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999314	NM_006431.3(CCT2):c.401C>T (p.Thr134Met)	CCT2 (T134M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1079077	NM_006431.3(CCT2):c.402G>A (p.Thr134=)	CCT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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