ClinVar Miner

Variants studied for Familial aplasia of the vermis; Meckel-Gruber syndrome

Coded as:
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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
638 212 1982 2910 180 5922

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 185 50 524 875 41 1675
RPGRIP1L 208 56 470 763 42 1539
TMEM67 102 45 297 418 25 887
MKS1 82 31 221 415 16 765
TCTN2 27 16 217 190 24 474
TCTN1 21 12 140 140 14 327
B9D1 2 2 62 65 6 137
LOC130061271, MKS1 7 0 20 21 0 48
B9D2 1 0 15 12 8 36
B9D1, LOC130060455 0 0 10 7 1 18
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 638 212 1982 2910 180 5922

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