ClinVar Miner

Variants studied for Joubert syndrome; Meckel-Gruber syndrome

Coded as:
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
683 222 1998 3134 184 6221

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CC2D2A 197 55 526 943 42 1763
RPGRIP1L 213 56 476 802 43 1590
TMEM67 118 48 298 457 26 947
MKS1 87 31 224 435 16 793
TCTN2 29 16 219 224 24 512
TCTN1 22 13 145 150 15 345
B9D1 5 3 58 73 6 145
LOC130061271, MKS1 7 0 20 23 0 50
B9D2 1 0 16 14 8 39
B9D1, LOC130060455 1 0 10 9 1 21
LOC130008755, TCTN1 0 0 0 4 1 5
ATP6V0A2, TCTN2 1 0 0 0 1 2
B9D2, TGFB1 0 0 1 0 1 2
AKAP1, APPBP2, BCAS3, BRIP1, C17orf47, C17orf67, CA4, CHCT1, CLTC, COIL, CUEDC1, DGKE, DHX40, DYNLL2, DYNLL2-DT, EPX, GDPD1, HEATR6, HSF5, LINC02875, LPO, MIR21, MKS1, MPO, MRPS23, MSI2, MTMR4, NACA2, NOG, OR4D1, OR4D2, PPM1D, PPM1E, PRR11, PTRH2, RAD51C, RNF43, RNFT1, RPS6KB1, SCPEP1, SEPTIN4, SKA2, SMG8, SRSF1, SUPT4H1, TBX2, TBX4, TEX14, TRIM25, TRIM37, TSPOAP1, TUBD1, USP32, VEZF1, VMP1, YPEL2 0 0 1 0 0 1
ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC5A10, SMCR8, SNORD3A, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B 0 0 1 0 0 1
BST1, CC2D2A, CD38, FAM200B, FBXL5, FGFBP1, FGFBP2, PROM1, TAPT1 0 0 1 0 0 1
EIF2B1, GTF2H3, TCTN2 0 0 1 0 0 1
FTO, IRX3, IRX5, IRX6, MMP2, RPGRIP1L 1 0 0 0 0 1
FTO, IRX3, IRX5, RPGRIP1L 0 0 1 0 0 1
PDP1, TMEM67 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 683 222 1998 3134 184 6221

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